(used for variant description)
(last modified December 20, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_018023.4 in the YEATS2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_054747.1, covering YEATS2 transcript NM_018023.4.
(upstream sequence)
. g.5015
gcggggcggaacgcg c.-181
. . . . . . g.5075
ccgggcgggctccaccgcgccgtgtgcttccgcaggttgcgggggtcgctggggccttgt c.-121
. . . . . . g.5135
ggcggggcagctccgcggggcttcgcccgctctctcacctcgccgtgctctctcgcggcg c.-61
. . . . . | 02 . g.22345
gccggcggggcccgcgctgcagccggagacccggagaaagg | tgaagaactgaatgtcatc c.-1
. . . . . . g.22405
ATGTCTGGAATCAAGCGAACCATCAAAGAAACCGACCCTGATTACGAGGATGTATCTGTG c.60
M S G I K R T I K E T D P D Y E D V S V p.20
. . . . | 03 . . g.24853
GCCCTTCCAAATAAGCGGCATAAAGCAATTGAGAATTCAG | CTCGAGATGCTGCTGTGCAG c.120
A L P N K R H K A I E N S A | R D A A V Q p.40
. . . . . . g.24913
AAGATTGAGACTATTATCAAAGAACAGTTTGCTCTTGAAATGAAGAATAAGGAACATGAA c.180
K I E T I I K E Q F A L E M K N K E H E p.60
. | 04 . . . . g.25724
ATTGAAGTCATTGACCAG | CGACTGATTGAAGCAAGAAGGATGATGGATAAACTGCGTGCC c.240
I E V I D Q | R L I E A R R M M D K L R A p.80
. . . . . | 05 . g.29082
TGCATTGTAGCAAACTACTATGCTTCTGCAGGTCTTCTAAAAGTTTCTGAG | GGATCAAAG c.300
C I V A N Y Y A S A G L L K V S E | G S K p.100
. . . . . . g.29142
ACATGTGATACAATGGTTTTTAATCATCCTGCTATCAAGAAATTTTTGGAATCACCATCT c.360
T C D T M V F N H P A I K K F L E S P S p.120
. . . . . . g.29202
AGGTCATCATCTCCTGCCAATCAGAGAGCAGAAACACCATCAGCCAATCATTCAGAAAGT c.420
R S S S P A N Q R A E T P S A N H S E S p.140
. . . . . . g.29262
GATTCTTTATCTCAGCACAATGACTTCTTATCTGACAAAGATAATAACAGCAATATGGAT c.480
D S L S Q H N D F L S D K D N N S N M D p.160
. . . . . | 06. g.31604
ATAGAGGAAAGACTCTCAAACAACATGGAGCAGAGACCAAGCCGAAATACTGGAAGG | GAT c.540
I E E R L S N N M E Q R P S R N T G R | D p.180
. . . . . . g.31664
ACTTCTAGAATTACTGGCTCCCATAAAACAGAACAGCGGAATGCTGATCTCACAGATGAG c.600
T S R I T G S H K T E Q R N A D L T D E p.200
. . . . . | 07 . g.35882
ACTTCACGACTTTTTGTAAAGAAAACAATAGTAGTGGGCAATGTGTCCAA | GTATATACCT c.660
T S R L F V K K T I V V G N V S K | Y I P p.220
. . . . . . g.35942
CCGGATAAGAGGGAAGAAAATGACCAGTCAACTCATAAGTGGATGGTATATGTCCGAGGG c.720
P D K R E E N D Q S T H K W M V Y V R G p.240
. . . . . . g.36002
TCCCGTAGAGAACCCAGCATTAATCATTTTGTCAAGAAGGTTTGGTTCTTCCTTCATCCT c.780
S R R E P S I N H F V K K V W F F L H P p.260
. . . | 08 . . . g.43928
AGCTATAAACCAAATGACCTTGTGGAAGTTAG | AGAGCCTCCTTTTCACCTGACCAGAAGA c.840
S Y K P N D L V E V R | E P P F H L T R R p.280
. . . . . . g.43988
GGCTGGGGTGAGTTTCCCGTCAGAGTTCAAGTTCATTTTAAGGACAGCCAGAACAAGCGG c.900
G W G E F P V R V Q V H F K D S Q N K R p.300
. . | 09 . . . . g.54890
ATAGATATCATACATAATCTGAAG | CTGGATAGAACTTATACTGGCTTGCAGACTCTTGGA c.960
I D I I H N L K | L D R T Y T G L Q T L G p.320
| 10 . . . . . g.59306
GCAGAGACG | GTAGTGGATGTTGAACTCCATCGCCATTCTCTCGGAGAAGACTGTATCTAT c.1020
A E T | V V D V E L H R H S L G E D C I Y p.340
. . . . . . g.59366
CCTCAGTCCTCGGAGTCTGACATCTCTGATGCCCCTCCATCTTTGCCTTTGACCATTCCA c.1080
P Q S S E S D I S D A P P S L P L T I P p.360
. . . . . . g.59426
GCCCCAGTGAAAGCTTCTTCACCAATAAAGCAGTCACATGAGCCAGTACCCGATACCTCT c.1140
A P V K A S S P I K Q S H E P V P D T S p.380
. | 11 . . . . . g.61358
GTGGAGAAAG | GATTCCCAGCTAGCACTGAAGCTGAACGACACACTCCGTTTTATGCTTTG c.1200
V E K G | F P A S T E A E R H T P F Y A L p.400
. . . . . . g.61418
CCATCTTCATTGGAAAGAACACCCACCAAAATGACTACATCCCAGAAAGTTACCTTTTGT c.1260
P S S L E R T P T K M T T S Q K V T F C p.420
. . . . . . g.61478
TCCCATGGCAATTCAGCTTTCCAGCCAATAGCATCAAGCTGCAAAATTGTTCCACAAAGT c.1320
S H G N S A F Q P I A S S C K I V P Q S p.440
. . . . . . g.61538
CAGGTTCCTAATCCTGAGTCACCTGGAAAATCCTTCCAGCCCATCACCATGAGCTGCAAG c.1380
Q V P N P E S P G K S F Q P I T M S C K p.460
. | 12 . . . . . g.63760
ATTGTGTCAG | GTTCCCCAATATCAACTCCAAGCCCATCACCATTGCCTCGAACCCCGACT c.1440
I V S G | S P I S T P S P S P L P R T P T p.480
. . . . . . g.63820
TCCACTCCAGTCCACGTGAAGCAAGGCACTGCCGGCTCTGTTATTAATAATCCTTATGTT c.1500
S T P V H V K Q G T A G S V I N N P Y V p.500
. . . . . | 13 . g.66052
ATCATGGACAAGCAGCCGGGGCAGGTGATTGGAGCCACCACTCCCAGTACAG | GAAGTCCT c.1560
I M D K Q P G Q V I G A T T P S T G | S P p.520
. . . . . . g.66112
ACAAACAAGATCTCCACGGCTTCTCAGGTCTCCCAAGGAACAGGTTCCCCTGTTCCTAAA c.1620
T N K I S T A S Q V S Q G T G S P V P K p.540
. . . | 14 . . . g.68713
ATTCATGGAAGTAGTTTTGTAACATCTACTGTCAAG | CAGGAGGATTCTTTGTTTGCATCT c.1680
I H G S S F V T S T V K | Q E D S L F A S p.560
. . . . . . g.68773
ATGCCACCTCTTTGCCCAATTGGGAGTCACCCTAAGGTTCAAAGCCCCAAACCTATAACA c.1740
M P P L C P I G S H P K V Q S P K P I T p.580
. . | 15 . . . . g.69315
GGAGGACTTGGAGCTTTCACAAAA | GTGATCATCAAACAGGAACCTGGTGAAGCCCCTCAC c.1800
G G L G A F T K | V I I K Q E P G E A P H p.600
. . . . . . g.69375
GTGCCCGCAACAGGAGCTGCCAGCCAGTCACCACTCCCGCAGTATGTGACTGTGAAAGGG c.1860
V P A T G A A S Q S P L P Q Y V T V K G p.620
. . . . . . g.69435
GGTCACATGATAGCTGTGTCCCCTCAAAAACAGGTCATAACTCCTGGAGAAGGGATTGCC c.1920
G H M I A V S P Q K Q V I T P G E G I A p.640
. . | 16. . . . g.79520
CAGTCAGCAAAGGTTCAGCCCTCCAAG | GTTGTCGGGGTACCAGTTGGGTCTGCTTTACCT c.1980
Q S A K V Q P S K | V V G V P V G S A L P p.660
. . . . . . g.79580
TCAACAGTGAAGCAGGCTGTGGCGATCAGTGGTGGCCAGATCCTGGTAGCCAAGGCCAGC c.2040
S T V K Q A V A I S G G Q I L V A K A S p.680
. . . . . . g.79640
TCTTCTGTCTCCAAAGCAGTTGGGCCAAAGCAAGTTGTAACCCAAGGAGTTGCCAAAGCA c.2100
S S V S K A V G P K Q V V T Q G V A K A p.700
. . . . . . g.79700
ATTGTGAGTGGAGGTGGAGGAACCATTGTTGCTCAGCCAGTGCAGACCTTAACCAAGGCC c.2160
I V S G G G G T I V A Q P V Q T L T K A p.720
. . . . | 17 . . g.80829
CAGGTTACTGCCGCTGGTCCTCAGAAGAGTGGATCCCAGGGTTCAG | TAATGGCAACGTTG c.2220
Q V T A A G P Q K S G S Q G S V | M A T L p.740
. . . . . . g.80889
CAGCTACCAGCCACTAATTTGGCCAACTTGGCAAATTTGCCTCCTGGCACTAAACTCTAC c.2280
Q L P A T N L A N L A N L P P G T K L Y p.760
. . . . . . g.80949
CTAACTACAAACAGCAAGAACCCTTCAGGAAAAGGAAAACTGCTGCTGATCCCTCAAGGA c.2340
L T T N S K N P S G K G K L L L I P Q G p.780
. . | 18 . . . g.83129
GCCATCCTGCGAGCTACGAACAATGCTA | ATCTCCAGTCTGGCTCAGCTGCCAGTGGTGGG c.2400
A I L R A T N N A N | L Q S G S A A S G G p.800
. . . . . . g.83189
AGTGGTGCCGGAGGAGGAGGAGGAGGAGGAGGAGGAGGCGGCAGTGGCAGCGGTGGAGGC c.2460
S G A G G G G G G G G G G G S G S G G G p.820
. . . . . . g.83249
GGCAGCACAGGAGGAGGAGGAGGAACAGCAGGAGGAGGAACTCAAAGTACTGCTGGCCCT c.2520
G S T G G G G G T A G G G T Q S T A G P p.840
. . . . . | 19. g.84727
GGAGGGATATCTCAGCACCTGACTTACACATCTTACATCCTCAAGCAAACTCCCCAG | GGC c.2580
G G I S Q H L T Y T S Y I L K Q T P Q | G p.860
. . . . . . g.84787
ACATTTTTAGTTGGCCAGCCATCACCCCAGACTTCTGGAAAACAACTCACCACTGGGTCA c.2640
T F L V G Q P S P Q T S G K Q L T T G S p.880
. . . . . . g.84847
GTGGTCCAAGGAACACTGGGAGTCAGCACATCTTCTGCACAAGGACAACAAACGCTAAAA c.2700
V V Q G T L G V S T S S A Q G Q Q T L K p.900
. . . | 20 . . . g.93331
GTCATCTCTGGACAGAAAACCACATTGTTTACACAG | GCAGCCCATGGAGGACAGGCATCT c.2760
V I S G Q K T T L F T Q | A A H G G Q A S p.920
. . . . . . g.93391
CTAATGAAAATATCCGATAGCACCTTGAAGACTGTGCCAGCCACCTCACAGCTCTCGAAG c.2820
L M K I S D S T L K T V P A T S Q L S K p.940
. . . . . . g.93451
CCTGGAACCACAATGCTGAGAGTAGCAGGAGGGGTTATCACAACTGCCACTTCCCCTGCC c.2880
P G T T M L R V A G G V I T T A T S P A p.960
. . . | 21 . . . g.98006
GTGGCCCTCTCAGCAAACGGTCCTGCACAACAG | TCTGAAGGAATGGCTCCCGTGTCTTCA c.2940
V A L S A N G P A Q Q | S E G M A P V S S p.980
. . . . . . g.98066
TCTACGGTCAGTTCTGTAACGAAAACTTCTGGGCAGCAGCAAGTGTGTGTGAGCCAGGCC c.3000
S T V S S V T K T S G Q Q Q V C V S Q A p.1000
. . . . . . g.98126
ACCGTGGGAACCTGCAAGGCTGCCACCCCCACCGTCGTCAGCGCCACGTCCCTCGTGCCT c.3060
T V G T C K A A T P T V V S A T S L V P p.1020
. . . | 22. . . g.105128
ACACCAAACCCCATCTCTGGGAAAGCCACAGTATCCG | GACTGTTAAAGATTCACTCCAGT c.3120
T P N P I S G K A T V S G | L L K I H S S p.1040
. . . . . . g.105188
CAGTCCAGTCCGCAGCAGGCCGTCCTGACGATTCCCAGCCAGCTCAAACCACTCAGCGTA c.3180
Q S S P Q Q A V L T I P S Q L K P L S V p.1060
. . . . | 23 . . g.106087
AACACATCTGGAGGGGTGCAGACGATCCTGATGCCTGTGAATAAAG | TGGTTCAGTCATTT c.3240
N T S G G V Q T I L M P V N K V | V Q S F p.1080
. . . . . . g.106147
TCTACCAGCAAGCCACCTGCCATTCTGCCTGTAGCTGCCCCAACTCCAGTTGTCCCCAGC c.3300
S T S K P P A I L P V A A P T P V V P S p.1100
. . | 24 . . . . g.107683
TCTGCTCCAGCAGCTGTTGCAAAAG | TGAAGACTGAACCAGAAACACCTGGACCGAGTTGC c.3360
S A P A A V A K V | K T E P E T P G P S C p.1120
. . . . . . g.107743
CTCTCTCAGGAGGGTCAGACAGCAGTGAAAACAGAAGAAAGTTCTGAGCTGGGAAACTAT c.3420
L S Q E G Q T A V K T E E S S E L G N Y p.1140
| 25 . . . . . g.108689
GTCATTAA | GATAGACCATTTAGAAACTATCCAGCAACTCCTAACTGCAGTAGTAAAGAAG c.3480
V I K | I D H L E T I Q Q L L T A V V K K p.1160
. . | 26 . . . . g.110476
ATTCCATTAATCACTGCAAAAA | GTGAAGATGCCAGCTGCTTTTCTGCAAAGTCTGTGGAG c.3540
I P L I T A K S | E D A S C F S A K S V E p.1180
. . . . | 27 . . g.111187
CAGTACTATGGCTGGAACATTGGAAAAAGGAGAGCCGCTGAG | TGGCAAAGAGCAATGACA c.3600
Q Y Y G W N I G K R R A A E | W Q R A M T p.1200
. . . . . . g.111247
ATGCGAAAAGTCTTACAAGAAATCCTGGAGAAGAATCCGAGATTTCACCACCTGACTCCC c.3660
M R K V L Q E I L E K N P R F H H L T P p.1220
. . . . . . g.111307
CTCAAAACCAAGCACATCGCTCACTGGTGCCGCTGTCATGGCTACACCCCACCGGACCCT c.3720
L K T K H I A H W C R C H G Y T P P D P p.1240
. . . . . . g.111367
GAGAGCCTGAGGAATGACGGGGACTCCATCGAGGACGTGCTGACCCAGATCGACAGCGAG c.3780
E S L R N D G D S I E D V L T Q I D S E p.1260
| 28 . . . . . . g.114104
CCCG | AGTGCCCATCATCATTCTCCTCTGCTGACAACCTCTGCCGCAAACTGGAGGACCTG c.3840
P E | C P S S F S S A D N L C R K L E D L p.1280
. . . . . . g.114164
CAACAGTTCCAGAAAAGGGAACCCGAGAATGAGGAGGAGGTGGACATCCTCAGCCTCTCC c.3900
Q Q F Q K R E P E N E E E V D I L S L S p.1300
. . . . . . g.114224
GAGCCAGTGAAGATAAACATCAAGAAGGAGCAGGAAGAGAAACAAGAGGAAGTCAAGTTC c.3960
E P V K I N I K K E Q E E K Q E E V K F p.1320
. . . . . | 29 . g.115221
TACCTGCCACCAACCCCAGGGTCTGAATTTATTGGGGATGTCACACAGAAG | ATTGGGATC c.4020
Y L P P T P G S E F I G D V T Q K | I G I p.1340
. . . . . . g.115281
ACCCTGCAGCCCGTGGCACTCCACAGGAACGTGTATGCGTCCGTGGTGGAGGACATGATC c.4080
T L Q P V A L H R N V Y A S V V E D M I p.1360
| 30 . . . . . . g.116333
CTGAAG | GCTACAGAACAGCTGGTGAATGATATCCTGAGACAGGCTTTGGCAGTTGGATAC c.4140
L K | A T E Q L V N D I L R Q A L A V G Y p.1380
. . | 31 . . . . g.117697
CAGACAGCTTCTCACAACAG | GATTCCCAAAGAAATTACAGTGAGTAATATTCACCAGGCC c.4200
Q T A S H N R | I P K E I T V S N I H Q A p.1400
. . . . . . g.117757
ATTTGCAACATTCCTTTTCTGGACTTCCTCACAAACAAACACATGGGAATATTGAATGAG c.4260
I C N I P F L D F L T N K H M G I L N E p.1420
g.117766
GACCAGTGA c.4269
D Q X p.1422
. . . . . . g.117826
gcggagtgaggtgccctggagaagcaggctttgaaggcacagcgaagctgtaactgagga c.*60
. . . . . . g.117886
ccctgctgctcgggaaggaggtggtttccagtgtgactcggcatgtcatggctacccaac c.*120
. . . . . . g.117946
ctttgccgctgcctgttcccacgtgtcaccagcacgctgcactccagatgaaatcctcct c.*180
. . . . . . g.118006
aggacaggagtttgtttcctgagtgtggagtgaggctgtcagtggatccgtgctttgtcg c.*240
. . . . . . g.118066
gccagcgtttctgcagtctttgtaaaggccccacgagagcgggccaggccgtgtgcctca c.*300
. . . . . . g.118126
ggcccttctccctgggtgtgcttaagggggctccttgggcccgcctccccaggaggtaga c.*360
. . . . . . g.118186
aaatgagtggcaggctagagatttcacccattttgtgggctggagttaccagtagctcca c.*420
. . . . . . g.118246
gcagttaccctgaagagagattgggcttcagccttcagcaggtggttctctcccatgcct c.*480
. . . . . . g.118306
ggccttggtgtggaggggctgtactctgagcccaagtgagtcagctataggaagaggcca c.*540
. . . . . . g.118366
tacctagagccaagaaccatgaaggcctgagagacggcagactgagcagaattccttttt c.*600
. . . . . . g.118426
tgagcacgagagcattactagaaccattgtcaaagcagtggcaagggacggagaggtccc c.*660
. . . . . . g.118486
aacaggagtcaggaagaggtttgattataaccaagaaaactcactatgctaggaatagac c.*720
. . . . . . g.118546
tgtgtgcaccagtcccagacacttggcagaagtgtagcagcgttacacatgtgtgcgaag c.*780
. . . . . . g.118606
cagatcgcaggttccacgccatctgcatggcctgcaggagcttctgctgctgaccccatg c.*840
. . . . . . g.118666
ctgagtggccagtggggagcggcgcccggcaggctcttctggggtcgtctgtcctatccg c.*900
. . . . . . g.118726
tggattgtatatactcttctctgttaaggagtttttcccaagaagaaaagtatttaaaag c.*960
. . . . . . g.118786
aaataccagtgagtgccttaaagttggagaagtaactgcccatgcccagaaataaggatg c.*1020
. . . . . . g.118846
ccagtgcccagaagcagtgagattagtctgtgtccacaagcagaggccccctcgatggga c.*1080
. . . . . . g.118906
gggagtggcaggcaggagaaggtggcgctgccaggtgcccgggtctattggaggcgcccc c.*1140
. . . . . . g.118966
atctcagacttcctaacacagcctgtgtggaaggcagaacaaagaatgcatgcccagtca c.*1200
. . . . . . g.119026
gaaatctgttctattctgctccaggaaaatcggaaacctgtgagtcagagtcagagaaac c.*1260
. . . . . . g.119086
ttacccaagcaacgtaattcctgttttcatgggtcctgtagatgtttgagtcaggaaggt c.*1320
. . . . . . g.119146
aaggcggggagtgactgaataaactctgccttttaaattgagcatctgggccgggcatgg c.*1380
. . . . . . g.119206
tggctcacgcctgtaatcccagcactctgggaggtcgaggtgggtgggtcacctgaggtt c.*1440
. . . . . . g.119266
gggagttcgagaccagcccgaccaacatggtgaaaccccgtctctactaaaaatacagaa c.*1500
. . . . . . g.119326
aattagctgggcatggtggtgtgtgcctgtaattccagctactcgggaggctgaggcagg c.*1560
. . . . . . g.119386
aagaatcacttgaacccaggaggcggaggttgcagtgtgccaagatcataccactgcact c.*1620
. . . . . . g.119446
ccagccctggtgacagaggagaccccgtctcaaaaattgattgatcaattcagcatctga c.*1680
. . . . . . g.119506
gggctgcaagtacagaaggaatctattctcagcagggcatagggcacgcactggcttaac c.*1740
. . . . . . g.119566
agtttagtatataaggctcaaatagtctatacctgaactgctataagcaaggtcgatagg c.*1800
. . . . . . g.119626
gaagtggatagattgcttcagcaaagtgaactgtgagatctccaggacagagggagaaag c.*1860
. . . . . . g.119686
atctgatccaaatgagaacagattggttattgcaggtatcacagcctaaagaaattatct c.*1920
. . . . . . g.119746
ttttgcaaaagaaatattaaatgatttagcagtctccacgtgtgttaatgtttcaaacgt c.*1980
. . . . . . g.119806
gtatcataatgtgtataattgtgtaacaaaattgtctacaataaatcttttggtatttgt c.*2040
g.119808
gg c.*2042
(downstream sequence)
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