(used for variant description)
(last modified December 28, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_003075.3 in the SMARCC2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_047081.1, covering SMARCC2 transcript NM_003075.3.
(upstream sequence)
. . . . g.5046
gcggccgcggcggcgggaggcggcgggaggcgggcggaggaggagg c.-61
. . . . . . g.5106
cggaggaggcgggagctgagctgagtggggcgggcggcggcggggcccgagccggagaag c.-1
. . . . . . g.5166
ATGGCGGTGCGGAAGAAGGACGGCGGCCCCAACGTGAAGTACTACGAGGCCGCGGACACC c.60
M A V R K K D G G P N V K Y Y E A A D T p.20
. . . . . | 02 . g.7270
GTGACCCAGTTCGACAACGTGCGGCTGTGGCTCGGCAAGAACTACAAGAAG | TATATACAA c.120
V T Q F D N V R L W L G K N Y K K | Y I Q p.40
. . . . . . g.7330
GCTGAACCACCCACCAACAAGTCCCTGTCTAGCCTGGTTGTACAGTTGCTACAATTTCAG c.180
A E P P T N K S L S S L V V Q L L Q F Q p.60
. . . . . | 03 . g.8336
GAAGAAGTTTTTGGCAAACATGTCAGCAATGCACCGCTCACTAAACTGCCG | ATCAAATGT c.240
E E V F G K H V S N A P L T K L P | I K C p.80
. . . . . . g.8396
TTCCTAGATTTCAAAGCGGGAGGCTCCTTGTGCCACATTCTTGCAGCTGCCTACAAATTC c.300
F L D F K A G G S L C H I L A A A Y K F p.100
. | 04. . . . . g.9499
AAGAGTGACCAGGGATG | GCGGCGTTACGATTTCCAGAATCCATCACGCATGGACCGCAAT c.360
K S D Q G W | R R Y D F Q N P S R M D R N p.120
. . . | 05 . . g.9652
GTGGAAATGTTTATGACCATTGAGAAGTCCTTGGTGCAG | AATAATTGCCTGTCTCGACCT c.420
V E M F M T I E K S L V Q | N N C L S R P p.140
. . . . . . g.9712
AACATTTTTCTGTGCCCAGAAATTGAGCCCAAACTACTAGGGAAATTAAAGGACATTATC c.480
N I F L C P E I E P K L L G K L K D I I p.160
. | 06 . . . . . g.10371
AAGAGACACCAG | GGAACAGTCACTGAGGATAAGAACAATGCCTCCCATGTTGTGTATCCT c.540
K R H Q | G T V T E D K N N A S H V V Y P p.180
. . | 07 . . . . g.10675
GTCCCGGGGAATCTAGAAGAAG | AGGAATGGGTACGACCAGTCATGAAGAGGGATAAGCAG c.600
V P G N L E E E | E W V R P V M K R D K Q p.200
. . . | 08 . . . g.12516
GTTCTTCTGCACTGGGGCTACTATCCTGACAG | TTACGACACGTGGATCCCAGCGAGTGAA c.660
V L L H W G Y Y P D S | Y D T W I P A S E p.220
. . . . | 09 . g.12744
ATTGAGGCATCTGTGGAAGATGCTCCAACTCCTGAGAAACCTAGGAAG | GTTCATGCAAAG c.720
I E A S V E D A P T P E K P R K | V H A K p.240
. . . . . . g.12804
TGGATCCTGGACACCGACACCTTCAATGAATGGATGAATGAGGAAGACTATGAAGTAAAT c.780
W I L D T D T F N E W M N E E D Y E V N p.260
. . . . . . g.12864
GATGACAAAAACCCTGTCTCCCGCCGAAAGAAGATTTCAGCCAAGACACTGACAGATGAG c.840
D D K N P V S R R K K I S A K T L T D E p.280
| 10 . . . . . . g.13030
| GTGAACAGCCCAGATTCAGATCGACGGGACAAGAAGGGGGGAAACTATAAGAAGAGGAAG c.900
| V N S P D S D R R D K K G G N Y K K R K p.300
. . . . . | 11 . g.13470
CGCTCCCCCTCTCCTTCACCAACCCCAGAAGCAAAGAAGAAAAATGCTAAGAAAGG | TCCC c.960
R S P S P S P T P E A K K K N A K K G | P p.320
. . . . . . g.13530
TCAACACCTTACACTAAGTCAAAGCGTGGCCACAGAGAAGAGGAGCAAGAAGACCTGACA c.1020
S T P Y T K S K R G H R E E E Q E D L T p.340
. . . . . . g.13590
AAGGACATGGACGAGCCCTCACCAGTCCCCAATGTAGAAGAGGTGACACTTCCCAAAACA c.1080
K D M D E P S P V P N V E E V T L P K T p.360
| 12 . . . . . . g.15570
G | TCAACACAAAGAAAGACTCAGAGTCGGCCCCAGTCAAAGGCGGCACCATGACCGACCTG c.1140
V | N T K K D S E S A P V K G G T M T D L p.380
| 13 . . . | 14 . . g.16054
G | ATGAACAGGAAGATGAAAGCATGGAGACGACGGGCAAG | GATGAGGATGAGAACAGTACG c.1200
D | E Q E D E S M E T T G K | D E D E N S T p.400
. . . . . . g.16114
GGGAACAAGGGAGAGCAGACCAAGAATCCAGACCTGCATGAGGACAATGTGACTGAACAG c.1260
G N K G E Q T K N P D L H E D N V T E Q p.420
. . . . . | 15 . g.16484
ACCCACCACATCATCATTCCCAGCTACGCTGCCTGGTTTGACTACAATAG | TGTTCATGCC c.1320
T H H I I I P S Y A A W F D Y N S | V H A p.440
. . . . . . g.16544
ATTGAGCGGAGGGCTCTCCCCGAGTTCTTCAACGGCAAGAACAAGTCCAAGACTCCAGAG c.1380
I E R R A L P E F F N G K N K S K T P E p.460
| 16 . . . . . . g.19861
AT | CTACCTGGCCTATCGAAACTTTATGATTGACACTTACCGACTGAACCCCCAAGAGTAT c.1440
I | Y L A Y R N F M I D T Y R L N P Q E Y p.480
. . . . . | 17 . g.20722
CTTACCTCTACCGCCTGCCGCCGAAACCTAGCGGGTGATGTCTGTGCCATCATGAG | GGTC c.1500
L T S T A C R R N L A G D V C A I M R | V p.500
. . . . . . g.20782
CATGCCTTCCTAGAACAGTGGGGTCTTATTAACTACCAGGTGGATGCTGAGAGTCGACCA c.1560
H A F L E Q W G L I N Y Q V D A E S R P p.520
. . . . . . g.20842
ACCCCAATGGGGCCTCCGCCTACCTCTCACTTCCATGTCTTGGCTGACACACCATCAGGG c.1620
T P M G P P P T S H F H V L A D T P S G p.540
. . . | 18 . . . g.21893
CTGGTGCCTCTGCAGCCCAAGACACCTCAG | CAGACCTCTGCTTCCCAACAAATGCTCAAC c.1680
L V P L Q P K T P Q | Q T S A S Q Q M L N p.560
. . . . . . g.21953
TTTCCTGACAAAGGCAAAGAGAAACCAACAGACATGCAAAACTTTGGGCTGCGCACAGAC c.1740
F P D K G K E K P T D M Q N F G L R T D p.580
. . . | 19 . . . g.22107
ATGTACACAAAAAAGAATGTTCCCTCCAAG | AGCAAGGCTGCAGCCAGTGCCACTCGTGAG c.1800
M Y T K K N V P S K | S K A A A S A T R E p.600
. . . | 20 . . . g.22657
TGGACAGAACAGGAAACCCTGCTTCTCCTGGAG | GCACTGGAAATGTACAAAGATGACTGG c.1860
W T E Q E T L L L L E | A L E M Y K D D W p.620
. . . . . . g.22717
AACAAAGTGTCCGAGCATGTGGGAAGCCGCACACAGGACGAGTGCATCTTGCATTTTCTT c.1920
N K V S E H V G S R T Q D E C I L H F L p.640
. . . . . . g.22777
CGTCTTCCCATTGAAGACCCATACCTGGAGGACTCAGAGGCCTCCCTAGGCCCCCTGGCC c.1980
R L P I E D P Y L E D S E A S L G P L A p.660
. . . . . . g.22837
TACCAACCCATCCCCTTCAGTCAGTCGGGCAACCCTGTTATGAGCACTGTTGCCTTCCTG c.2040
Y Q P I P F S Q S G N P V M S T V A F L p.680
. . . . . | 21 . g.23143
GCCTCTGTCGTCGATCCCCGAGTCGCCTCTGCTGCTGCAAAGTCAGCCCTAG | AGGAGTTC c.2100
A S V V D P R V A S A A A K S A L E | E F p.700
. . . . . . g.23203
TCCAAAATGAAGGAAGAGGTACCCACGGCCTTGGTGGAGGCCCATGTTCGAAAAGTGGAA c.2160
S K M K E E V P T A L V E A H V R K V E p.720
. . . . . . g.23263
GAAGCAGCCAAAGTAACAGGCAAGGCGGACCCTGCCTTCGGTCTGGAAAGCAGTGGCATT c.2220
E A A K V T G K A D P A F G L E S S G I p.740
. . . | 22 . . . g.24385
GCAGGAACCACCTCTGATGAGCCTGAGCGGATTG | AGGAGAGCGGGAATGACGAGGCTCGG c.2280
A G T T S D E P E R I E | E S G N D E A R p.760
. . . | 23 . . g.24677
GTGGAAGGCCAGGCCACAGATGAGAAGAAGGAGCCCAAG | GAACCCCGAGAAGGAGGGGGT c.2340
V E G Q A T D E K K E P K | E P R E G G G p.780
. . . . . . g.24737
GCTATAGAGGAGGAAGCAAAAGAGAAAACCAGCGAGGCTCCCAAGAAGGATGAGGAGAAA c.2400
A I E E E A K E K T S E A P K K D E E K p.800
. . . . . | 24 . g.24877
GGGAAAGAAGGCGACAGTGAGAAGGAGTCCGAGAAGAGTGATGGAGACCCAATAG | TCGAT c.2460
G K E G D S E K E S E K S D G D P I V | D p.820
. . . . . . g.24937
CCTGAGAAGGAGAAGGAGCCAAAGGAAGGGCAGGAGGAAGTGCTGAAGGAAGTGGTGGAG c.2520
P E K E K E P K E G Q E E V L K E V V E p.840
. . . . . . g.24997
TCTGAGGGGGAAAGGAAGACAAAGGTGGAGCGGGACATTGGCGAGGGCAACCTCTCCACC c.2580
S E G E R K T K V E R D I G E G N L S T p.860
. . . . | 25 . . g.26391
GCTGCTGCCGCCGCCCTGGCCGCCGCCGCAGTGAAAGCTAAG | CACTTGGCTGCTGTTGAG c.2640
A A A A A L A A A A V K A K | H L A A V E p.880
. . . . . . g.26451
GAAAGGAAGATCAAATCTTTGGTGGCCCTGCTGGTGGAGACCCAGATGAAAAAGTTGGAG c.2700
E R K I K S L V A L L V E T Q M K K L E p.900
. . . . . | 26. g.28871
ATCAAACTTCGGCACTTTGAGGAGCTGGAGACTATCATGGACCGGGAGCGAGAAGCA | CTG c.2760
I K L R H F E E L E T I M D R E R E A | L p.920
. . . . . . g.28931
GAGTATCAGAGGCAGCAGCTCCTGGCCGACAGACAAGCCTTCCACATGGAGCAGCTGAAG c.2820
E Y Q R Q Q L L A D R Q A F H M E Q L K p.940
. . . . . . g.28991
TATGCGGAGATGAGGGCTCGGCAGCAGCACTTCCAACAGATGCACCAACAGCAGCAGCAG c.2880
Y A E M R A R Q Q H F Q Q M H Q Q Q Q Q p.960
. . . . . . g.29051
CCACCACCAGCCCTGCCCCCAGGCTCCCAGCCTATCCCCCCAACAGGGGCTGCTGGGCCA c.2940
P P P A L P P G S Q P I P P T G A A G P p.980
. . . . . . g.29111
CCCGCAGTCCATGGCTTGGCTGTGGCTCCAGCCTCTGTAGTCCCTGCTCCTGCTGGCAGT c.3000
P A V H G L A V A P A S V V P A P A G S p.1000
. . . . . . g.29171
GGGGCCCCTCCAGGAAGTTTGGGCCCTTCTGAACAGATTGGGCAGGCAGGGTCAACTGCA c.3060
G A P P G S L G P S E Q I G Q A G S T A p.1020
. . . . . . g.29231
GGGCCACAGCAGCAGCAACCAGCTGGAGCCCCCCAGCCTGGGGCAGTCCCACCAGGGGTT c.3120
G P Q Q Q Q P A G A P Q P G A V P P G V p.1040
. | 27 . . . . g.29877
CCCCCCCCTGGACCCCATG | GCCCCTCACCGTTCCCCAACCAACAAACTCCTCCCTCAATG c.3180
P P P G P H G | P S P F P N Q Q T P P S M p.1060
. . . . . . g.29937
ATGCCAGGGGCAGTGCCAGGCAGCGGGCACCCAGGCGTGGCGGGTAATGCTCCTTTGGGT c.3240
M P G A V P G S G H P G V A G N A P L G p.1080
. . . . . . g.29997
TTGCCTTTTGGCATGCCGCCTCCTCCTCCTCCTCCTGCTCCATCCATCATCCCATTTGGT c.3300
L P F G M P P P P P P P A P S I I P F G p.1100
. . . . . . g.30057
AGTCTAGCTGACTCCATCAGTATTAACCTCCCCGCTCCTCCTAACCTGCATGGGCATCAC c.3360
S L A D S I S I N L P A P P N L H G H H p.1120
. . . . . . g.30117
CACCATCTCCCGTTCGCCCCGGGCACTCTCCCCCCACCTAACCTGCCTGTGTCCATGGCG c.3420
H H L P F A P G T L P P P N L P V S M A p.1140
. . . . . . g.30177
AACCCTCTACATCCTAACCTGCCGGCGACCACCACCATGCCATCTTCCTTGCCTCTCGGG c.3480
N P L H P N L P A T T T M P S S L P L G p.1160
. . . . . . g.30237
CCGGGGCTCGGATCCGCCGCAGCCCAAAGCCCTGCCATTGTGGCAGCTGTTCAGGGCAAC c.3540
P G L G S A A A Q S P A I V A A V Q G N p.1180
. . | 28 . . . g.30834
CTCCTGCCCAGTGCCAGCCCACTGCCAG | ACCCAGGCACCCCCCTGCCTCCAGACCCCACA c.3600
L L P S A S P L P D | P G T P L P P D P T p.1200
. . . . g.30879
GCCCCGAGCCCAGGCACGGTCACCCCTGTGCCACCTCCACAGTGA c.3645
A P S P G T V T P V P P P Q X p.1214
. . . . . . g.30939
ggagccagccagacatctctccccctcaccccctgtggacatcacggttccaggaacagc c.*60
. . . . . . g.30999
ccttcccccaccactgggaccctccccagcctggagagttcatcactacgtaaggaaagc c.*120
. . . . . . g.31059
tccttccgcccctccaaagccctcaccatgcctaacagaggcatgcatttttatatcaga c.*180
. . . . . . g.31119
ttattcaaggacttctgtttaaaagatgtttataatgtctgggagagaggataggatggg c.*240
. . . . . . g.31179
aatgctgccctaaaggaagggctggtgaaaggtgtttatacaaggttctattaaccactt c.*300
. . . . . . g.31239
ctaagggtacacctccctccaaactactgcattttctatggattaaaaaaaaaaaaaaaa c.*360
. . . . . . g.31299
agtagattttaaaaagccacattggagctcccttctacccactaaaaaataaccaatttt c.*420
. . . . . . g.31359
tacattttttgagggggagtgagttttaggaaaggggaattaagattccagggagagctc c.*480
. . . . . . g.31419
tggggatagaacagggcgcagattccatctctccccaagcccctttttagtgactaagtc c.*540
. . . . . . g.31479
aaggccccaactcccctcccccaccctacgctgagcttattcgagttcattcgtactaat c.*600
. . . . . . g.31539
aatccctcctgcggcttcctcattgttgctgttttaggccaccccagctcagccaatgat c.*660
. . . . . . g.31599
tcctttccctctgaatgtcagttttgtttttaaaagtcacttgcttagttgatgtcagcg c.*720
. . . . . . g.31659
tatgtgtatttggtggggaaaacctaatttcggggatttctgtggtaggtaataggagaa c.*780
. . . . . . g.31719
gaaagggcactgggggctgttctccttccttccctgggctgtatccatggactcctggaa c.*840
. . . . . . g.31779
ggcacagagaagggagctataagaggatgtgaagttttaaaacctgaaattgttttttaa c.*900
. . . . . . g.31839
agcacttaagcacctccatattatgacttggtgggtcaccccttagcttcctccctctcc c.*960
. . . . . . g.31899
caccaagactatgagaacttcagctgatagctgggggctccccagatgaggatgcaggga c.*1020
. . . . . . g.31959
tttgggagcagtggaagagggtgcccaaccttgggttggaccaacccttggctcgcagct c.*1080
. . . . . . g.32019
caactctgcttcccgcattcctgctccacgtgtcccagcttctcccctgtgacgggaagg c.*1140
. . . . . . g.32079
caggtgtgactccaggctctgcactggttcttcttggttcctcccaccaggccctttgtt c.*1200
. . . . . . g.32139
cctcatgtccccatgtttctctccctctgcgtcttagcacctttcttctgttcaaagttt c.*1260
. . . . . . g.32199
tctgtaaattttctctttttttctttctttcttttttttttttttataaattaatttgct c.*1320
. . . . . . g.32259
ttcagttccatcttgtgggtgcattctgtgttcttacctgtggctgtcaggcagggggat c.*1380
. . . . . . g.32319
tgtgatgggagcagctttcctggagtccttcacagcggcgtttacctgggccgaaagaca c.*1440
. . . . . . g.32379
ctctgcaagccacacggcctacagacactgcgcctccccacaaaacacgaacggcagcac c.*1500
. . . . . . g.32439
aactgtcgagactatgtgctggtataggagcagaggctctcacctgccctaaaagctgtt c.*1560
. . . . . . g.32499
taagacttggaaggacattcccacaacatggaattttgtatctctgtcccttcagaagta c.*1620
. . . . . . g.32559
gtggtttcactccttcccttattagagaggaggcaagccccttacctacttttgttataa c.*1680
. . . . . . g.32619
ttggcccttcaccctgctgaggtgacggacaggcttaggcagtgctaataatggcctggc c.*1740
. . . . . . g.32679
tttagctccaataaacactccacaggcttccccacaaaaggccttattgggagcttggga c.*1800
. . . g.32716
gggcgggggccagatttaaggagctggaagggtagga c.*1837
(downstream sequence)
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