(used for variant description)
(last modified June 17, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_001042750.1 in the STAG2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000023.10, covering STAG2 transcript NM_001042750.1.
(upstream sequence)
. g.6094
ctctcttcctccc c.-301
. . . . . . g.6154
ttcctagagagggaacaacattcatgtgacgggcccctctgcttctcccccgccccatca c.-241
. . . . . . g.6214
tctccagcgcgtggtgggggaactgctggggaaggcgattggcatcgatctctccatccc c.-181
. . | 02. . . . g.65784
ttccgaggcccgacttcg | gtggccaccgagtactaaattcacttgggaataaaagaaaaa c.-121
. . . | 03 . . . g.66943
cataagaaaattataagagaaag | gaattgtcttagaagaaagaaggcaagccaccatttt c.-61
. . . . . . g.67003
acccacgtaaatatatgaatatatttctgacattgaggtgttccagaagatgataaagaa c.-1
. . . . | 04 . . g.70231
ATGATAGCAGCTCCAGAAATACCAACTGATTTTAATCTACTACA | GGAGTCAGAAACACAT c.60
M I A A P E I P T D F N L L Q | E S E T H p.20
. . . . . . g.70291
TTTTCTTCTGACACAGATTTTGAAGATATCGAAGGAAAAAACCAAAAGCAAGGCAAAGGC c.120
F S S D T D F E D I E G K N Q K Q G K G p.40
| 05 . . . . . . g.75393
AAA | ACTTGTAAAAAAGGCAAAAAGGGCCCAGCAGAAAAGGGCAAAGGTGGAAATGGAGGA c.180
K | T C K K G K K G P A E K G K G G N G G p.60
. . . . . . g.75453
GGAAAACCTCCTTCTGGTCCAAACCGAATGAATGGTCATCACCAACAGAATGGAGTGGAA c.240
G K P P S G P N R M N G H H Q Q N G V E p.80
. . . . | 06 . g.81914
AACATGATGTTGTTTGAAGTTGTTAAAATGGGCAAGAGTGCTATGCAG | TCGGTGGTAGAT c.300
N M M L F E V V K M G K S A M Q | S V V D p.100
. . . . . . g.81974
GATTGGATAGAATCATACAAGCATGACCGAGATATAGCACTTCTTGACCTTATCAACTTT c.360
D W I E S Y K H D R D I A L L D L I N F p.120
. . | 07 . . . . g.86979
TTTATTCAGTGTTCAGGCTGTAAAG | GAGTTGTCACAGCAGAAATGTTTAGACATATGCAG c.420
F I Q C S G C K G | V V T A E M F R H M Q p.140
. . . . | 08 . . g.89557
AACTCTGAGATAATTCGAAAAATGACTGAAGAATTCGATGAG | GATAGTGGAGATTATCCA c.480
N S E I I R K M T E E F D E | D S G D Y P p.160
. . . . . . g.89617
CTTACCATGGCTGGTCCTCAGTGGAAGAAGTTCAAATCCAGTTTTTGTGAATTCATTGGC c.540
L T M A G P Q W K K F K S S F C E F I G p.180
. . . . . . g.89677
GTGTTAGTACGGCAATGTCAATATAGTATCATATATGATGAGTATATGATGGATACAGTC c.600
V L V R Q C Q Y S I I Y D E Y M M D T V p.200
. . . . . . g.89737
ATTTCACTTCTTACAGGATTGTCTGACTCACAAGTCAGAGCATTTCGACATACAAGCACC c.660
I S L L T G L S D S Q V R A F R H T S T p.220
| 09. . . . . . g.91782
CTGGCAG | CTATGAAGTTGATGACAGCTTTGGTGAATGTGGCACTAAATCTTAGCATTAAT c.720
L A A | M K L M T A L V N V A L N L S I N p.240
. . . . . . g.91842
ATGGATAATACACAAAGACAATATGAAGCAGAACGGAATAAAATGATTGGAAAACGAGCC c.780
M D N T Q R Q Y E A E R N K M I G K R A p.260
. . . | 10 . . g.93401
AATGAGAGGCTAGAACTCCTGCTACAAAAGCGGAAAGAG | CTTCAGGAAAATCAAGATGAA c.840
N E R L E L L L Q K R K E | L Q E N Q D E p.280
. . . . . | 11 . g.94568
ATAGAAAATATGATGAATGCAATATTTAAAGGAGTGTTTGTACATAGATACCG | TGATGCG c.900
I E N M M N A I F K G V F V H R Y R | D A p.300
. . . . . . g.94628
ATAGCTGAAATTCGAGCTATTTGCATTGAAGAGATTGGCATTTGGATGAAGATGTATAGT c.960
I A E I R A I C I E E I G I W M K M Y S p.320
. . . . . | 12. g.95499
GATGCCTTTCTTAATGACAGTTATTTAAAATATGTTGGTTGGACTATGCATGATAAG | CAA c.1020
D A F L N D S Y L K Y V G W T M H D K | Q p.340
. . . . . . g.95559
GGTGAAGTAAGACTCAAATGTCTTACTGCTCTACAAGGGCTTTATTATAACAAAGAGCTT c.1080
G E V R L K C L T A L Q G L Y Y N K E L p.360
. . . | 13 . . . g.95714
AATTCCAAACTGGAACTTTTTACCAGTCGGTTCAAG | GATAGAATTGTGTCTATGACCCTT c.1140
N S K L E L F T S R F K | D R I V S M T L p.380
. . . . . | 14 . g.100507
GACAAAGAATATGATGTTGCAGTACAAGCAATAAAATTACTCACTCTTGTTTTACA | GAGT c.1200
D K E Y D V A V Q A I K L L T L V L Q | S p.400
. . . . . . g.100567
AGTGAAGAAGTTCTCACTGCAGAAGATTGTGAAAATGTCTATCATCTGGTTTATTCAGCT c.1260
S E E V L T A E D C E N V Y H L V Y S A p.420
. . . . | 15 . . g.102257
CACCGGCCAGTAGCAGTAGCAGCTGGAGAATTTCTCTACAAAAA | GCTCTTCAGTCGTAGA c.1320
H R P V A V A A G E F L Y K K | L F S R R p.440
. . . . . . g.102317
GATCCAGAGGAGGATGGAATGATGAAAAGAAGAGGAAGACAAGGTCCAAATGCCAACCTT c.1380
D P E E D G M M K R R G R Q G P N A N L p.460
. . . | 16 . . . g.105623
GTTAAGACATTGGTTTTTTTCTTTCTAGAAAGTGAG | TTACATGAGCATGCAGCATACCTT c.1440
V K T L V F F F L E S E | L H E H A A Y L p.480
. . . . . . g.105683
GTGGATAGCATGTGGGACTGTGCTACTGAGCTGCTGAAAGACTGGGAATGTATGAATAGC c.1500
V D S M W D C A T E L L K D W E C M N S p.500
. . . | 17 . . . g.106172
TTGTTACTGGAAGAGCCACTTAGTGGAGAGGAAG | CACTAACAGATAGGCAAGAGAGTGCT c.1560
L L L E E P L S G E E A | L T D R Q E S A p.520
. . . . . . g.106232
CTGATTGAAATAATGCTTTGTACCATTAGACAAGCGGCTGAATGTCATCCTCCCGTGGGA c.1620
L I E I M L C T I R Q A A E C H P P V G p.540
. | 18 . . . . g.107319
AGAGGGACAGGAAAAAGG | GTGCTTACAGCAAAGGAGAAGAAGACACAGTTGGATGATAGG c.1680
R G T G K R | V L T A K E K K T Q L D D R p.560
. . . . . | 19 . g.107500
ACAAAAATCACTGAGCTTTTTGCCGTGGCCCTTCCTCAGTTATTAGCAAAA | TACTCTGTA c.1740
T K I T E L F A V A L P Q L L A K | Y S V p.580
. . . . . . g.107560
GATGCAGAAAAGGTGACTAACTTGTTGCAGTTGCCTCAGTACTTTGATTTGGAAATATAT c.1800
D A E K V T N L L Q L P Q Y F D L E I Y p.600
. . | 20 . . . . g.108262
ACCACTGGACGATTAGAAAAG | CATTTGGATGCCTTATTGCGACAGATCCGGAATATTGTA c.1860
T T G R L E K | H L D A L L R Q I R N I V p.620
. . . . . . g.108322
GAGAAGCACACAGATACAGATGTTTTGGAAGCATGTTCTAAAACTTACCATGCACTCTGT c.1920
E K H T D T D V L E A C S K T Y H A L C p.640
. . . . . . g.108382
AATGAAGAGTTCACAATCTTCAACAGAGTAGATATTTCAAGAAGTCAACTGATAGATGAA c.1980
N E E F T I F N R V D I S R S Q L I D E p.660
. . . . | 21 . . g.110266
TTGGCAGATAAATTTAACCGGCTTCTTGAAGATTTTCTGCAAGAG | GGTGAAGAACCTGAT c.2040
L A D K F N R L L E D F L Q E | G E E P D p.680
. . . . . | 22 . g.110554
GAAGATGATGCATATCAGGTATTGTCAACATTGAAGAGGATCACTGCTTTTCATAA | TGCC c.2100
E D D A Y Q V L S T L K R I T A F H N | A p.700
. . . . . . g.110614
CATGACCTTTCAAAGTGGGATTTATTTGCTTGTAATTACAAACTCTTGAAAACTGGAATC c.2160
H D L S K W D L F A C N Y K L L K T G I p.720
. . | 23 . . . . g.110767
GAAAATGGAGACATGCCTGAGCAG | ATTGTTATTCACGCACTGCAGTGTACTCACTATGTA c.2220
E N G D M P E Q | I V I H A L Q C T H Y V p.740
. . . . | 24 . . g.112954
ATCCTTTGGCAACTTGCTAAGATAACTGAAAGCAGCTCTACAAAG | GAGGACTTGCTGCGT c.2280
I L W Q L A K I T E S S S T K | E D L L R p.760
. . . . . . g.113014
TTAAAGAAACAAATGAGAGTATTTTGTCAGATATGTCAACATTACCTGACCAACGTGAAT c.2340
L K K Q M R V F C Q I C Q H Y L T N V N p.780
. | 25 . . . . g.115566
ACTACTGTTAAGGAACAG | GCCTTCACTATTCTGTGTGATATTTTGATGATCTTCAGCCAT c.2400
T T V K E Q | A F T I L C D I L M I F S H p.800
. . . . . . g.115626
CAGATTATGTCAGGAGGGCGTGACATGTTAGAGCCATTAGTGTATACCCCTGATTCTTCA c.2460
Q I M S G G R D M L E P L V Y T P D S S p.820
. . . . . . g.115686
TTGCAGTCTGAGTTGCTCAGCTTTATTTTGGATCATGTCTTCATTGAACAGGATGATGAT c.2520
L Q S E L L S F I L D H V F I E Q D D D p.840
. | 26 . . . . . g.120754
AATAATAGTGCAG | ATGGTCAGCAAGAGGATGAAGCCAGTAAAATTGAAGCTCTGCACAAG c.2580
N N S A D | G Q Q E D E A S K I E A L H K p.860
. . . . . . g.120814
AGAAGAAATTTACTTGCAGCATTTTGTAAGCTAATTGTATATACTGTGGTGGAGATGAAT c.2640
R R N L L A A F C K L I V Y T V V E M N p.880
. . . | 27 . . . g.122359
ACAGCTGCAGATATCTTCAAACAGTATATGAAG | TATTATAATGACTATGGAGATATCATC c.2700
T A A D I F K Q Y M K | Y Y N D Y G D I I p.900
. . . . . . g.122419
AAAGAAACAATGAGTAAAACAAGGCAGATAGACAAAATTCAGTGTGCTAAGACCCTTATT c.2760
K E T M S K T R Q I D K I Q C A K T L I p.920
. | 28 . . . . . g.125800
CTCAGTCTGCAACAG | CTTTTTAATGAAATGATACAAGAAAATGGCTATAATTTTGATAGA c.2820
L S L Q Q | L F N E M I Q E N G Y N F D R p.940
. . . . . . g.125860
TCATCCTCTACATTTAGTGGCATAAAAGAACTTGCTCGACGTTTTGCTTTAACTTTTGGA c.2880
S S S T F S G I K E L A R R F A L T F G p.960
. . . . | 29 . . g.127812
CTTGATCAGTTGAAAACAAGAGAAGCCATTGCCATGCTACACAA | AGATGGCATAGAATTT c.2940
L D Q L K T R E A I A M L H K | D G I E F p.980
. . . . . . g.127872
GCTTTTAAAGAGCCTAATCCGCAAGGGGAGAGCCATCCACCTTTAAATTTGGCATTTCTT c.3000
A F K E P N P Q G E S H P P L N L A F L p.1000
. . . . . | 30 . g.130929
GATATTCTGAGTGAATTTTCTTCTAAACTACTTCGACAAGACAAAAGAACAGT | GTATGTT c.3060
D I L S E F S S K L L R Q D K R T V | Y V p.1020
. . . . . . g.130989
TACTTGGAAAAGTTCATGACCTTTCAGATGTCACTCCGAAGAGAGGATGTGTGGCTTCCA c.3120
Y L E K F M T F Q M S L R R E D V W L P p.1040
. . . . . . g.131049
CTGATGTCTTACCGAAATTCTTTGCTAGCTGGTGGTGATGATGACACCATGTCAGTCATT c.3180
L M S Y R N S L L A G G D D D T M S V I p.1060
. . . . . . g.131109
AGTGGAATCAGCAGCCGGGGGTCAACAGTACGGAGTAAAAAATCAAAACCATCTACAGGA c.3240
S G I S S R G S T V R S K K S K P S T G p.1080
. . . | 31. . . g.134973
AAACGGAAAGTGGTTGAGGGCATGCAGCTTTCACTCA | CTGAAGAAAGTAGTAGTAGTGAC c.3300
K R K V V E G M Q L S L T | E E S S S S D p.1100
. . . . . . g.135033
AGTATGTGGTTAAGCAGAGAACAAACACTGCACACCCCTGTTATGATGCAGACACCACAA c.3360
S M W L S R E Q T L H T P V M M Q T P Q p.1120
. . . . . . g.135093
CTCACCTCCACTATTATGAGAGAGCCCAAAAGATTACGGCCTGAGGATAGCTTCATGAGT c.3420
L T S T I M R E P K R L R P E D S F M S p.1140
. . . . | 32. . g.135242
GTTTATCCAATGCAGACTGAACATCATCAAACACCTCTTGATTATAA | CACGCAGGTAACA c.3480
V Y P M Q T E H H Q T P L D Y N | T Q V T p.1160
. . . . . . g.135302
TGGATGTTAGCTCAAAGACAACAAGAGGAAGCAAGGCAACAGCAGGAGAGAGCAGCAATG c.3540
W M L A Q R Q Q E E A R Q Q Q E R A A M p.1180
. . . | 33 . . g.138415
AGCTATGTTAAACTGCGAACTAATCTTCAGCATGCCAT | TCGGCGTGGCACAAGCCTAATG c.3600
S Y V K L R T N L Q H A I | R R G T S L M p.1200
. . . . . . g.138475
GAAGATGATGAAGAGCCAATTGTGGAAGATGTTATGATGTCCTCAGAAGGGAGGATTGAG c.3660
E D D E E P I V E D V M M S S E G R I E p.1220
. . . . | 34 . . g.139762
GATCTTAATGAGGGAATGGATTTTGACACCATGGATATAGATTTG | CCACCATCAAAGAAC c.3720
D L N E G M D F D T M D I D L | P P S K N p.1240
. . . . . . g.139822
AGACGAGAGAGAACAGAACTGAAGCCTGATTTCTTTGATCCAGCTTCAATTATGGATGAA c.3780
R R E R T E L K P D F F D P A S I M D E p.1260
| 35 . . g.145006
TCA | GTTCTTGGAGTGTCAATGTTTTAA c.3807
S | V L G V S M F X p.1268
. . . . . . g.145066
taccagtacacaattaaatctgtggtgaagtcattttctaagtggaagaggaaattttaa c.*60
. . . . . . g.145126
agtgtggtagatacagtgaaattctgtacagatttttctctaaggagaatatgacatgct c.*120
. . . . . . g.145186
tatgcttaccaagatcaagtgcattgaggggcagttttgtttgcctgaataaacgtaaag c.*180
. . . . . . g.145246
gacaagtaaacaatttgatgataagctacagtttttcttagaaagtaaatattttattta c.*240
. . . . . . g.145306
tgcgctgttagttggcttttgaatcgattatttcatgcttttttttaaaaaaaaaaaaaa c.*300
. . . . . . g.145366
acaaaataacaatctgaagaggcatttggtacagatatgaattctcttacatttatttac c.*360
. . . . . . g.145426
tggttgtactaaataatgatgacctctgctggatttctgtttacatccagaaaacaatgt c.*420
. . . . . . g.145486
taaggatgtatttattcccctaccctgaagaaagtgtaggatagaattgtttttagcatt c.*480
. . . . . . g.145546
ctaaatttaaatgcttaaaacgtcaatcaacaaaactttgttttaaatattgtaattgtg c.*540
. . . . . . g.145606
gagaaaagtaaacttataagcagaacttttacaattttttcatctaaaagtattttaaga c.*600
. . . . . . g.145666
tatttttaaaatccaagagcttctctatacttttcagaaatatccagatgcagtgaactg c.*660
. . . . . . g.145726
ccagaaggtaaccagtctcaaacatgcttatcccattatcaaccctgaaagtttgcttgt c.*720
. . . . . . g.145786
cctttaagataaaaatgtaatgttgtgatattccttccagtaatgccactgtattttgtc c.*780
. . . . . . g.145846
tccaaataaaagaagcttattgtagtatgtttgcagaaaaattctaaacaaaaattatac c.*840
. . . . . . g.145906
agcttattagagtgtgggaatagggatctaaattttaaataaaattatatatatatataa c.*900
. . . . . . g.145966
attggtgctgattttataattgcgcagtttgtttagttttttcttacttttaaattccaa c.*960
. . . . . . g.146026
cttaaaattatgaggtttcagaaatatattgaaagtttaacaatgtttaaaaatagaaaa c.*1020
. . . . . . g.146086
gcatgagtgttcatgctttaaaatgatttttaaatttgtattttatattgttttatctat c.*1080
. . . . . . g.146146
ctgtctttgcaagcagtcttcaggttaaagatacttctaacaggttacagtacatttcct c.*1140
. . . . . . g.146206
ctgtatgtaaattagatgggataatagaattcataacccataatattctttgaaagctaa c.*1200
. . . . . . g.146266
gctttaaacttcattttatgtcctttcacaaataaattagtttaaaacagaaagtggcta c.*1260
. . . . . . g.146326
cttgccattttgacatcaactcattttgcgaggcttaggcagctagacatcgtttaaaac c.*1320
. . . . . . g.146386
aaaatattaacttatattacatgtgtatctatctattgtcagtcgtctctcagttcttga c.*1380
. . . . . . g.146446
ggtatattattttaatcattccatgccttaatatgcttgcaatacaagaatatcttcaga c.*1440
. . . . . . g.146506
tgggtgaataccaaaaggctttcagtttttagtcagaaatcaagcattgggctgtggtag c.*1500
. . . . . . g.146566
ccaaaaaccataggttagctaaaaagatcatgatacaattattttattaagtcatggtta c.*1560
. . . . . . g.146626
ataacaaatgaatccagacttgtctaacagattttccatcaacaaatattgttatgtgca c.*1620
. . . . . . g.146686
aaagtattgcctatgttgttttacacaccactgcattaactagaactgctgagaggactg c.*1680
. . . . . . g.146746
tatatatgattttaaacctaagttgattttttttctcactcttgaaaggagtacttcttt c.*1740
. . . . . . g.146806
gtgaaagcagttcttacagctttgttttcaaccagctaaaaatgttttatatattactct c.*1800
. . . . . . g.146866
aacctgttgtcctccacattctattgtcctaattgtactgttttctgatttgtatttatg c.*1860
. . . . . . g.146926
tcttgagacagtaactttttgaataaaaataaacctacagtatgttgtatgttttctctt c.*1920
. . . . . . g.146986
gtactcaaagggggagggtggctataaatggtttgcaaatttatatctattatcacatct c.*1980
. . . . . . g.147046
tttaatgtgtttggggaataatttatagagaataccatcagtttatatttttaataaatc c.*2040
. g.147065
atatgtatttacaatgaaa c.*2059
(downstream sequence)
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