(used for variant description)
(last modified February 8, 2024)
This file was created to facilitate the description of sequence variants on transcript NM_018263.4 in the ASXL2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering ASXL2 transcript NM_018263.4.
(upstream sequence)
. . . . g.5041
agcggcggtagcagtggcaacggcagcaagaggaccggccg c.-181
. . . . . . g.5101
ccccatagacccccccgcgcaccacccccgccgcttcctctgcttgggtgcccccccggt c.-121
. . . . . . g.5161
ctgacttcccttttctcccacctttcccggcaccgcgggaaaagcagcgcagggcagagc c.-61
. . . . . . g.5221
aggcagggagggcggccggagcccggacacgggagcctcccagtcagttcaagacccgac c.-1
. . . . . | 02. g.37883
ATGAGGGAAAAGGGACGTAGGAAGAAGGGCAGGACCTGGGCGGAGGCCGCCAAGACG | GTC c.60
M R E K G R R K K G R T W A E A A K T | V p.20
. . . . . . g.37943
TTAGAAAAATACCCCAATACACCCATGAGTCATAAAGAAATTCTTCAAGTTATCCAGAGA c.120
L E K Y P N T P M S H K E I L Q V I Q R p.40
. . | 03 | 04 . . . . g.77143
GAAGGACTAAAAGAAATCAG | AAG | TGGGACTTCTCCTCTTGCATGCCTGAATGCAATGCTT c.180
E G L K E I R | S | G T S P L A C L N A M L p.60
. . . . . . g.77203
CACACAAACTCCAGAGGTGAAGAGGGCATCTTCTATAAGGTTCCAGGTAGAATGGGAGTA c.240
H T N S R G E E G I F Y K V P G R M G V p.80
. | 05 . . . . . g.83956
TATACTTTGAAG | AAAGATGTGCCGGATGGGGTGAAAGAGCTGTCAGAAGGTTCAGAAGAA c.300
Y T L K | K D V P D G V K E L S E G S E E p.100
. . . . . . g.84016
AGCAGTGATGGTCAGTCAGATTCCCAGAGTTCTGAGAACAGCAGCAGCAGCAGTGATGGT c.360
S S D G Q S D S Q S S E N S S S S S D G p.120
. . . . | 06 . . g.111920
GGCAGCAACAAGGAGGGAAAAAAGAGCAGGTGGAAAAGGAAAG | TATCGTCGTCCTCCCCG c.420
G S N K E G K K S R W K R K V | S S S S P p.140
. . . . . . g.111980
CAGTCAGGCTGCCCATCACCCACCATTCCAGCAGGTAAAGTCATTTCTCCATCACAGAAG c.480
Q S G C P S P T I P A G K V I S P S Q K p.160
. . | 07 . . . . g.114611
CACAGCAAGAAGGCACTAAAGCAG | GCGCTAAAGCAGCAACAGCAGAAGAAGCAGCAGCAG c.540
H S K K A L K Q | A L K Q Q Q Q K K Q Q Q p.180
. . . . . . g.114671
CAATGCAGGCCAAGCATATCCATCTCCTCCAACCAGCATCTCTCACTAAAGACTGTCAAA c.600
Q C R P S I S I S S N Q H L S L K T V K p.200
. . . | 08 . . . g.115746
GCAGCCAGTGACTCTGTACCTGCCAAACCTG | CAACATGGGAAGGAAAGCAATCTGATGGA c.660
A A S D S V P A K P A | T W E G K Q S D G p.220
. . . . . . g.115806
CAGACAGGCAGCCCTCAAAACTCAAACTCCAGCTTTTCTTCCTCAGTTAAAGTGGAAAAT c.720
Q T G S P Q N S N S S F S S S V K V E N p.240
. . . . . | 09 . g.123803
ACTTTACTAGGCTTGGGGAAGAAGTCATTCCAGAGATCTGAGAGACTCCATACCA | GACAA c.780
T L L G L G K K S F Q R S E R L H T R | Q p.260
. . . . . . g.123863
ATGAAAAGAACTAAATGTGCTGACATTGACGTTGAGACACCGGACTCCATTCTGGTTAAT c.840
M K R T K C A D I D V E T P D S I L V N p.280
. . . . . . g.123923
ACAAATCTGCGAGCACTGATCAACAAGCACACATTTTCAGTCCTTCCTGGAGATTGCCAG c.900
T N L R A L I N K H T F S V L P G D C Q p.300
. . . | 10 . . g.127350
CAACGACTGCTTTTACTACTCCCAGAGGTAGATCGACAG | GTTGGTCCAGATGGTTTAATG c.960
Q R L L L L L P E V D R Q | V G P D G L M p.320
. . . . . . g.127410
AAGTTAAATGGCTCAGCCCTTAACAATGAATTCTTCACTTCAGCAGCCCAAGGCTGGAAG c.1020
K L N G S A L N N E F F T S A A Q G W K p.340
. | 11 . . . . . g.129848
GAAAGACTCTCAGAAG | GTGAGTTTACACCTGAGATGCAGGTGAGAATTCGACAAGAGATT c.1080
E R L S E G | E F T P E M Q V R I R Q E I p.360
. . . . . . g.129908
GAGAAGGAGAAAAAAGTGGAGCCATGGAAAGAACAATTCTTTGAAAGCTACTATGGGCAG c.1140
E K E K K V E P W K E Q F F E S Y Y G Q p.380
| 12 . . . . . . g.133088
AG | TTCTGGCCTGAGCCTTGAAGATTCTAAGAAATTGACAGCTTCTCCCAGTGATCCCAAA c.1200
S | S G L S L E D S K K L T A S P S D P K p.400
. . . . . . g.133148
GTAAAGAAAACCCCAGCTGAACAACCAAAATCCATGCCTGTGTCAGAGGCCTCTCTTATC c.1260
V K K T P A E Q P K S M P V S E A S L I p.420
. . . . . . g.133208
AGAATAGTTCCAGTAGTCTCCCAGTCAGAGTGTAAAGAAGAAGCATTGCAAATGTCATCA c.1320
R I V P V V S Q S E C K E E A L Q M S S p.440
. . . . . . g.133268
CCAGGCAGAAAAGAAGAGTGTGAAAGCCAAGGTGAAGTGCAGCCGAACTTCTCCACATCT c.1380
P G R K E E C E S Q G E V Q P N F S T S p.460
. . . . . . g.133328
TCAGAGCCCCTGCTTTCCTCAGCTCTCAATACACATGAGCTTAGCAGCATTCTTCCCATC c.1440
S E P L L S S A L N T H E L S S I L P I p.480
. . . . . . g.133388
AAGTGCCCAAAGGATGAGGATCTCTTGGAGCAGAAGCCAGTCACCTCTGCTGAACAGGAA c.1500
K C P K D E D L L E Q K P V T S A E Q E p.500
. . . . . . g.133448
TCTGAGAAGAACCATCTCACCACAGCTTCTAATTATAACAAAAGTGAAAGCCAAGAATCT c.1560
S E K N H L T T A S N Y N K S E S Q E S p.520
. . . . . . g.133508
TTAGTTACATCGCCAAGCAAACCCAAGAGTCCTGGGGTTGAAAAACCAATAGTGAAGCCC c.1620
L V T S P S K P K S P G V E K P I V K P p.540
. . . . . . g.133568
ACAGCAGGAGCGGGTCCACAGGAGACTAATATGAAAGAACCTCTAGCAACTCTTGTTGAT c.1680
T A G A G P Q E T N M K E P L A T L V D p.560
. . . . . . g.133628
CAGAGCCCAGAAAGCCTCAAGAGGAAGTCTTCCCTCACCCAAGAAGAGGCCCCTGTGAGC c.1740
Q S P E S L K R K S S L T Q E E A P V S p.580
. . . . . . g.133688
TGGGAGAAGAGGCCACGTGTCACTGAGAATCGCCAGCACCAGCAGCCATTTCAGGTCTCA c.1800
W E K R P R V T E N R Q H Q Q P F Q V S p.600
. . . . . . g.133748
CCACAGCCCTTTCTCAATAGAGGGGACAGAATCCAGGTGCGAAAAGTACCACCTCTCAAG c.1860
P Q P F L N R G D R I Q V R K V P P L K p.620
| 13 . . . . . . g.139027
| ATCCCGGTCTCCAGAATCTCCCCCATGCCGTTTCATCCATCGCAGGTCTCTCCCAGGGCT c.1920
| I P V S R I S P M P F H P S Q V S P R A p.640
. . . . . . g.139087
CGTTTTCCAGTCTCCATCACTAGTCCTAACAGAACAGGAGCCAGAACTCTTGCAGACATC c.1980
R F P V S I T S P N R T G A R T L A D I p.660
. . . . . . g.139147
AAAGCAAAAGCCCAACTGGTCAAAGCACAGAGGGCAGCAGCTGCCGCTGCCGCCGCAGCT c.2040
K A K A Q L V K A Q R A A A A A A A A A p.680
. . . . . . g.139207
GCTGCAGCCGCCTCAGTTGGAGGGACCATTCCAGGACCTGGCCCAGGGGGTGGACAAGGT c.2100
A A A A S V G G T I P G P G P G G G Q G p.700
. . . . . . g.139267
CCAGGAGAGGGTGGTGAAGGGCAGACTGCTAGAGGAGGCAGTCCAGGCTCAGACAGAGTC c.2160
P G E G G E G Q T A R G G S P G S D R V p.720
. . . . . . g.139327
AGTGAAACTGGAAAGGGCCCCACACTGGAACTGGCAGGAACTGGAAGCAGGGGAGGTACG c.2220
S E T G K G P T L E L A G T G S R G G T p.740
. . . . . . g.139387
AGAGAGCTTTTACCCTGTGGTCCAGAGACTCAGCCCCAGTCTGAGACCAAGACCACCCCA c.2280
R E L L P C G P E T Q P Q S E T K T T P p.760
. . . . . . g.139447
AGCCAGGCACAGCCTCATAGTGTCTCTGGAGCACAACTACAGCAAACCCCCCCAGTGCCT c.2340
S Q A Q P H S V S G A Q L Q Q T P P V P p.780
. . . . . . g.139507
CCAACACCTGCCGTCAGTGGAGCATGCACAAGTGTCCCATCACCAGCCCACATAGAGAAA c.2400
P T P A V S G A C T S V P S P A H I E K p.800
. . . . . . g.139567
TTGGATAATGAAAAACTGAACCCCACCAGAGCAACAGCCACAGTGGCCTCTGTCAGCCAT c.2460
L D N E K L N P T R A T A T V A S V S H p.820
. . . . . . g.139627
CCACAAGGGCCCAGTAGTTGCAGACAGGAGAAAGCACCTTCTCCAACAGGTCCTGCTCTA c.2520
P Q G P S S C R Q E K A P S P T G P A L p.840
. . . . . . g.139687
ATCTCAGGTGCCTCACCTGTTCATTGTGCAGCTGATGGCACAGTTGAGCTCAAAGCAGGT c.2580
I S G A S P V H C A A D G T V E L K A G p.860
. . . . . . g.139747
CCTAGTAAGAATATACCTAACCCTTCAGCCTCATCAAAGACAGATGCTAGTGTGCCAGTG c.2640
P S K N I P N P S A S S K T D A S V P V p.880
. . . . . . g.139807
GCTGTAACTCCCTCCCCTTTAACATCTTTATTGACCACAGCCACTTTAGAAAAGCTTCCT c.2700
A V T P S P L T S L L T T A T L E K L P p.900
. . . . . . g.139867
GTACCCCAGGTCAGTGCAACTACAGCACCTGCTGGATCAGCTCCACCCTCGAGCACTTTG c.2760
V P Q V S A T T A P A G S A P P S S T L p.920
. . . . . . g.139927
CCAGCAGCTTCTAGCCTTAAAACCCCAGGAACTTCTTTAAACATGAATGGACCCACTTTA c.2820
P A A S S L K T P G T S L N M N G P T L p.940
. . . . . . g.139987
AGACCAACCTCTAGTATCCCTGCTAATAATCCTTTAGTGACTCAGCTGCTTCAAGGCAAA c.2880
R P T S S I P A N N P L V T Q L L Q G K p.960
. . . . . . g.140047
GATGTTCCCATGGAGCAAATTCTGCCTAAACCTCTCACCAAAGTTGAAATGAAAACGGTT c.2940
D V P M E Q I L P K P L T K V E M K T V p.980
. . . . . . g.140107
CCACTGACTGCAAAAGAGGAAAGGGGGATGGGAGCGCTCATAGCTACCAACACAACAGAA c.3000
P L T A K E E R G M G A L I A T N T T E p.1000
. . . . . . g.140167
AATAGCACCAGAGAGGAAGTTAATGAGAGACAGTCCCATCCAGCTACGCAGCAGCAGCTG c.3060
N S T R E E V N E R Q S H P A T Q Q Q L p.1020
. . . . . . g.140227
GGCAAAACCTTGCAAAGTAAGCAGCTCCCCCAGGTTCCAAGGCCCCTTCAGCTCTTTTCA c.3120
G K T L Q S K Q L P Q V P R P L Q L F S p.1040
. . . . . . g.140287
GCTAAGGAGCTGAGGGACTCCAGCATTGACACACACCAATACCACGAAGGACTAAGTAAA c.3180
A K E L R D S S I D T H Q Y H E G L S K p.1060
. . . . . . g.140347
GCAACCCAAGATCAGATCCTTCAGACTCTCATTCAGAGGGTTCGGAGGCAGAATCTTCTC c.3240
A T Q D Q I L Q T L I Q R V R R Q N L L p.1080
. . . . . . g.140407
TCAGTTGTGCCGCCCTCACAGTTCAACTTCGCTCACTCAGGTTTCCAGCTGGAAGACATC c.3300
S V V P P S Q F N F A H S G F Q L E D I p.1100
. . . . . . g.140467
TCCACAAGCCAGAGGTTCATGCTGGGTTTTGCTGGCAGAAGGACATCCAAACCTGCAATG c.3360
S T S Q R F M L G F A G R R T S K P A M p.1120
. . . . . . g.140527
GCAGGGCACTACTTACTGAATATTTCTACCTACGGCCGGGGCTCAGAGAGCTTTAGGAGG c.3420
A G H Y L L N I S T Y G R G S E S F R R p.1140
. . . . . . g.140587
ACCCATTCTGTAAACCCTGAAGATCGTTTTTGTCTAAGCAGCCCCACTGAAGCCTTGAAA c.3480
T H S V N P E D R F C L S S P T E A L K p.1160
. . . . . . g.140647
ATGGGATATACAGACTGTAAAAATGCAACAGGAGAGAGTAGCAGCAGCAAAGAAGATGAC c.3540
M G Y T D C K N A T G E S S S S K E D D p.1180
. . . . . . g.140707
ACTGATGAGGAAAGTACTGGTGATGAGCAGGAATCTGTCACAGTGAAAGAGGAGCCCCAG c.3600
T D E E S T G D E Q E S V T V K E E P Q p.1200
. . . . . . g.140767
GTTTCCCAGAGTGCTGGCAAGGGTGACACAAGTTCAGGACCTCACAGCAGGGAAACTCTA c.3660
V S Q S A G K G D T S S G P H S R E T L p.1220
. . . . . . g.140827
TCTACCAGTGATTGCTTAGCTAGCAAGAATGTGAAGGCTGAGATACCATTGAATGAGCAA c.3720
S T S D C L A S K N V K A E I P L N E Q p.1240
. . . . . . g.140887
ACCACTTTAAGTAAGGAGAATTACCTGTTCACTAGAGGCCAAACATTTGATGAAAAGACC c.3780
T T L S K E N Y L F T R G Q T F D E K T p.1260
. . . . . . g.140947
CTAGCCAGAGATTTAATTCAGGCAGCACAGAAGCAGATGGCTCATGCAGTGAGAGGTAAG c.3840
L A R D L I Q A A Q K Q M A H A V R G K p.1280
. . . . . . g.141007
GCAATCCGTAGCAGCCCCGAGCTTTTCAGTTCTACTGTTCTTCCTCTGCCTGCAGACAGC c.3900
A I R S S P E L F S S T V L P L P A D S p.1300
. . . . . . g.141067
CCCACCCACCAGCCCCTACTCCTTCCACCCCTGCAAACCCCGAAGTTGTATGGAAGCCCC c.3960
P T H Q P L L L P P L Q T P K L Y G S P p.1320
. . . . . . g.141127
ACCCAGATAGGGCCAAGCTATAGAGGCATGATCAATGTCTCCACCTCATCTGACATGGAC c.4020
T Q I G P S Y R G M I N V S T S S D M D p.1340
. . . . . . g.141187
CATAACTCTGCTGTACCAGGTAGCCAGGTATCTAGCAATGTAGGTGATGTCATGTCATTT c.4080
H N S A V P G S Q V S S N V G D V M S F p.1360
. . . . . . g.141247
TCAGTGACTGTCACTACCATCCCTGCTAGCCAAGCTATGAATCCCAGCAGCCATGGCCAG c.4140
S V T V T T I P A S Q A M N P S S H G Q p.1380
. . . . . . g.141307
ACCATTCCTGTTCAGGCGTTCTCCGAAGAGAACAGCATAGAGGGCACGCCTTCGAAATGT c.4200
T I P V Q A F S E E N S I E G T P S K C p.1400
. . . . . . g.141367
TACTGCCGCTTGAAAGCCATGATCATGTGCAAAGGCTGTGGCGCTTTCTGCCATGATGAT c.4260
Y C R L K A M I M C K G C G A F C H D D p.1420
. . . . g.141415
TGCATCGGCCCCTCCAAACTGTGCGTCTCCTGCCTTGTCGTTCGGTAA c.4308
C I G P S K L C V S C L V V R X p.1435
. . . . . . g.141475
tgagactagaaagagatacactgtaaaggagggggaagggaagggttgaccagttgggtt c.*60
. . . . . . g.141535
ttttgcgtccttttggaatcacagaaataaacaagtaggtttcagttgtcttcagagaca c.*120
. . . . . . g.141595
aatgttacttaatcaggaatacaaagtacagattttttacattttagaggaagagcacct c.*180
. . . . . . g.141655
tgtatagtaagtctaagtcaagcaagactttgtgaatttgtgacaagtttgcacttacaa c.*240
. . . . . . g.141715
aatcatgtaaatatgtcacattttgtttaacattatttttccaagtgtttaggtaataat c.*300
. . . . . . g.141775
gtattactttgaattcagattaatgttctactacttgtgactgagaaaagtttaatgccg c.*360
. . . . . . g.141835
gcatggtaaaaggaagctgtctcccttctgacatttcctaggaagctaggaaaaggaaag c.*420
. . . . . . g.141895
tgaaggaatggtctaaagaaatgaccattcacactgattttgtctggacagtctggccgc c.*480
. . . . . . g.141955
aggttattcatagattattcagcctttgcaggacttggattcagggttttactcagtccc c.*540
. . . . . . g.142015
tttaccttaggtggaatcttcttaaattgaaatttttggtaaggaattcatttcacaggt c.*600
. . . . . . g.142075
agtgtttcagactctgaaagccctgacttggttcttggcttctactgtactagttactag c.*660
. . . . . . g.142135
ttactggtactgttgccaagcaatctgcttggaatttgtggatccctgctgttccctaat c.*720
. . . . . . g.142195
cccaccccctgccctgagacagtgaatgtagtccgtgaagggagtgcctctctgggaccc c.*780
. . . . . . g.142255
cctgtgttgttacaggctgtgcagtgcaacaattccagcaaaaataccctatccccgcac c.*840
. . . . . . g.142315
ttagtcattcgtggtaactaacaattttgaaatactcatataaaatgaacaggaaagtgt c.*900
. . . . . . g.142375
tagtgattgggtgatttgagctacatcttgttgagcaaggggagtgaaaccacagaaact c.*960
. . . . . . g.142435
gttaaattgaacgtaaataactttggaaaacagttttgacactagaacaaggtcgcttct c.*1020
. . . . . . g.142495
cttttcctcttctctcccaacctgttaacctagtgctagatagtcagctgctgttgcagg c.*1080
. . . . . . g.142555
tagaaaagctcaccaatgccacatttgttcattctgttcaacctgttttgacctcccagg c.*1140
. . . . . . g.142615
catctgaacaggatgacatcatcttattatatcttactttacacatacgtgtatgtacac c.*1200
. . . . . . g.142675
acacacacacaatacaagacatttttcctgttttagaaaatatagcccttgtttggatta c.*1260
. . . . . . g.142735
ctgctgtctgagcactagaaatttctaatggaaagaggcctctgaatggctaagggaaca c.*1320
. . . . . . g.142795
tctggaaaggaaggaaaatgagccctaaaggttttttggttgcttgtttttgtttctttt c.*1380
. . . . . . g.142855
tctttcttgtttccttttttgtttttaaatccttctctagtgactgaagaaattgtgagt c.*1440
. . . . . . g.142915
acataatatttaggtcatggttaaggaacattaaaataaacctgcagtttaacagaattt c.*1500
. . . . . . g.142975
tgtattaaatgggggagtgtcaatttgcatcatttgcatattgatttcaagtctcctaat c.*1560
. . . . . . g.143035
ttggaatgggtaaagtacaaatgttaatgcaacatagtacagttgtatttgtccttcata c.*1620
. . . . . . g.143095
ttcaggatgtgatatttacaaaatgcagaacagtttaaacttgttaagtcacattccaga c.*1680
. . . . . . g.143155
ttaggagaaaatgggcaataatcatctctgttttgcccccattctactacccaccactgc c.*1740
. . . . . . g.143215
ccaccccacccccacatcacacactcttcgatgctttcccacagcccctgctccgctcct c.*1800
. . . . . . g.143275
ctccgtaagaaactcacttcactgtttttcacttttcacttctggcttttttgtggccca c.*1860
. . . . . . g.143335
aggccaatataggattaatatctgtgttccagcttcagccagaacgatatgtctgtccat c.*1920
. . . . . . g.143395
ctttctcctttcttccagcacacacagctaagagataagaaggctgcaaggattggggat c.*1980
. . . . . . g.143455
aaggagtatattttcaagccaagaaccagtagaaaacagaaataatggtgctcccaaata c.*2040
. . . . . . g.143515
ttcagtaccttgggcaatccaggaagggtttaaagagacctgttgctgcatagaactctc c.*2100
. . . . . . g.143575
cctgccctaccccttaactccaccttagtgccagggccgagggctggtctgcatgctgga c.*2160
. . . . . . g.143635
agaggttgagagttttggaattgattccatgctaaatgtcagttaccagtttggattgat c.*2220
. . . . . . g.143695
gaaagtgatttttctgctttacctttttcctgtcagaaaggttttcctctgtgctaccct c.*2280
. . . . . . g.143755
taacttagggatgaacagactataactaggaaaggaggaaaggtatcagggatttttaag c.*2340
. . . . . . g.143815
tccgtttagagagcaaaccatattgtgcctcttcatcttgacccaggctcttatagatag c.*2400
. . . . . . g.143875
gtcctaaacattgctgttcactagattatcttaacaaataatactcagctaaatatttgc c.*2460
. . . . . . g.143935
atttaggaatactcctaaaacagatattgccaactagatacactgcctcaatcttgacca c.*2520
. . . . . . g.143995
gacaagagaacagttaagttctctcagttgggtagtaacttgaataccagtctatttatc c.*2580
. . . . . . g.144055
agttggtttcaacacagaggtttcaagtggaaagccattcatcttaaaagctgaacagaa c.*2640
g.144060
aaatt c.*2645
(downstream sequence)
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