(used for variant description)
(last modified November 26, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_003070.3 in the SMARCA2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_032162.2, covering SMARCA2 transcript NM_003070.3.
(upstream sequence)
. . . g.5039
tttctgtactctgggtgactcagagagggaagagattca c.-61
. . . | 02 . . . g.18681
gccagcacactcctcgcgagcaag | cattactctactgactggcagagacaggagaggtag c.-1
. . . . . . g.18741
ATGTCCACGCCCACAGACCCTGGTGCGATGCCCCACCCAGGGCCTTCGCCGGGGCCTGGG c.60
M S T P T D P G A M P H P G P S P G P G p.20
. . . . . . g.18801
CCTTCCCCTGGGCCAATTCTTGGGCCTAGTCCAGGACCAGGACCATCCCCAGGTTCCGTC c.120
P S P G P I L G P S P G P G P S P G S V p.40
. . . . . . g.18861
CACAGCATGATGGGGCCAAGTCCTGGACCTCCAAGTGTCTCCCATCCTATGCCGACGATG c.180
H S M M G P S P G P P S V S H P M P T M p.60
. . . . | 03 . . g.22625
GGGTCCACAGACTTCCCACAGGAAGGCATGCATCAAATGCATAAG | CCCATCGATGGTATA c.240
G S T D F P Q E G M H Q M H K | P I D G I p.80
. . . . . . g.22685
CATGACAAGGGGATTGTAGAAGACATCCATTGTGGATCCATGAAGGGCACTGGTATGCGA c.300
H D K G I V E D I H C G S M K G T G M R p.100
. . . . . | 04 . g.29129
CCACCTCACCCAGGCATGGGCCCTCCCCAGAGTCCAATGGATCAACACAGCCAAG | GTTAT c.360
P P H P G M G P P Q S P M D Q H S Q G | Y p.120
. . . . . . g.29189
ATGTCACCACACCCATCTCCATTAGGAGCCCCAGAGCACGTCTCCAGCCCTATGTCTGGA c.420
M S P H P S P L G A P E H V S S P M S G p.140
. . . . . . g.29249
GGAGGCCCAACTCCACCTCAGATGCCACCAAGCCAGCCGGGGGCCCTCATCCCAGGTGAT c.480
G G P T P P Q M P P S Q P G A L I P G D p.160
. . . . . . g.29309
CCGCAGGCCATGAGCCAGCCCAACAGAGGTCCCTCACCTTTCAGTCCTGTCCAGCTGCAT c.540
P Q A M S Q P N R G P S P F S P V Q L H p.180
. . . . . . g.29369
CAGCTTCGAGCTCAGATTTTAGCTTATAAAATGCTGGCCCGAGGCCAGCCCCTCCCCGAA c.600
Q L R A Q I L A Y K M L A R G Q P L P E p.200
. . . . . . g.29429
ACGCTGCAGCTTGCAGTCCAGGGGAAAAGGACGTTGCCTGGCTTGCAGCAACAACAGCAG c.660
T L Q L A V Q G K R T L P G L Q Q Q Q Q p.220
. . . . . . g.29489
CAGCAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCCGCAG c.720
Q Q Q Q Q Q Q Q Q Q Q Q Q Q Q Q Q Q P Q p.240
. . . . . . g.29549
CAGCAGCCGCCGCAACCACAGACGCAGCAACAACAGCAGCCGGCCCTTGTTAACTACAAC c.780
Q Q P P Q P Q T Q Q Q Q Q P A L V N Y N p.260
. | 05 . . . . . g.36937
AGACCATCTG | GCCCGGGGCCGGAGCTGAGCGGCCCGAGCACCCCGCAGAAGCTGCCGGTG c.840
R P S G | P G P E L S G P S T P Q K L P V p.280
. . . . . . g.36997
CCCGCGCCCGGCGGCCGGCCCTCGCCCGCGCCCCCCGCAGCCGCGCAGCCGCCCGCGGCC c.900
P A P G G R P S P A P P A A A Q P P A A p.300
. . . . . . g.37057
GCAGTGCCCGGGCCCTCAGTGCCGCAGCCGGCCCCGGGGCAGCCCTCGCCCGTCCTCCAG c.960
A V P G P S V P Q P A P G Q P S P V L Q p.320
. . . . . . g.37117
CTGCAGCAGAAGCAGAGCCGCATCAGCCCCATCCAGAAACCGCAAGGCCTGGACCCCGTG c.1020
L Q Q K Q S R I S P I Q K P Q G L D P V p.340
. . | 06 . . . . g.44289
GAAATTCTGCAAGAGCGGGAATACAG | ACTTCAGGCCCGCATAGCTCATAGGATACAAGAA c.1080
E I L Q E R E Y R | L Q A R I A H R I Q E p.360
. . . . . . g.44349
CTGGAAAATCTGCCTGGCTCTTTGCCACCAGATTTAAGAACCAAAGCAACCGTGGAACTA c.1140
L E N L P G S L P P D L R T K A T V E L p.380
. . . | 07 . . . g.46357
AAAGCACTTCGGTTACTCAATTTCCAGCGTCAG | CTGAGACAGGAGGTGGTGGCCTGCATG c.1200
K A L R L L N F Q R Q | L R Q E V V A C M p.400
. . . . . . g.46417
CGCAGGGACACGACCCTGGAGACGGCTCTCAACTCCAAAGCATACAAACGGAGCAAGCGC c.1260
R R D T T L E T A L N S K A Y K R S K R p.420
. . . . . . g.46477
CAGACTCTGAGAGAAGCTCGCATGACCGAGAAGCTGGAGAAGCAGCAGAAGATTGAGCAG c.1320
Q T L R E A R M T E K L E K Q Q K I E Q p.440
. . | 08. . . . g.47982
GAGAGGAAACGCCGTCAGAAACACCAG | GAATACCTGAACAGTATTTTGCAACATGCAAAA c.1380
E R K R R Q K H Q | E Y L N S I L Q H A K p.460
. . . . . . g.48042
GATTTTAAGGAATATCATCGGTCTGTGGCCGGAAAGATCCAGAAGCTCTCCAAAGCAGTG c.1440
D F K E Y H R S V A G K I Q K L S K A V p.480
. . . . . . g.48102
GCAACTTGGCATGCCAACACTGAAAGAGAGCAGAAGAAGGAGACAGAGCGGATTGAAAAG c.1500
A T W H A N T E R E Q K K E T E R I E K p.500
. . | 09 . . . . g.50513
GAGAGAATGCGGCGACTGATG | GCTGAAGATGAGGAGGGTTATAGAAAACTGATTGATCAA c.1560
E R M R R L M | A E D E E G Y R K L I D Q p.520
. . . . . . g.50573
AAGAAAGACAGGCGTTTAGCTTACCTTTTGCAGCAGACCGATGAGTATGTAGCCAATCTG c.1620
K K D R R L A Y L L Q Q T D E Y V A N L p.540
. . . . . . g.50633
ACCAATCTGGTTTGGGAGCACAAGCAAGCCCAGGCAGCCAAAGAGAAGAAGAAGAGGAGG c.1680
T N L V W E H K Q A Q A A K E K K K R R p.560
. | 10 . . . . . g.60124
AGGAGGAAGAAG | AAGGCTGAGGAGAATGCAGAGGGTGGGGAGTCTGCCCTGGGACCGGAT c.1740
R R K K | K A E E N A E G G E S A L G P D p.580
| 11 . . . . . . g.62924
GGAGAG | CCCATAGATGAGAGCAGCCAGATGAGTGACCTCCCTGTCAAAGTGACTCACACA c.1800
G E | P I D E S S Q M S D L P V K V T H T p.600
. . . . . . g.62984
GAAACCGGCAAGGTTCTGTTCGGACCAGAAGCACCCAAAGCAAGTCAGCTGGACGCCTGG c.1860
E T G K V L F G P E A P K A S Q L D A W p.620
. | 12. . . . . g.63267
CTGGAAATGAATCCTGG | TTATGAAGTTGCCCCTAGATCTGACAGTGAAGAGAGTGATTCT c.1920
L E M N P G | Y E V A P R S D S E E S D S p.640
. | 13 . . . . . g.65932
GATTATGAGGAAGAG | GATGAGGAAGAAGAGTCCAGTAGGCAGGAAACCGAAGAGAAAATA c.1980
D Y E E E | D E E E E S S R Q E T E E K I p.660
. . . . . | 14 . g.67291
CTCCTGGATCCAAATAGCGAAGAAGTTTCTGAGAAGGATGCTAAGCAGATCATTGA | GACA c.2040
L L D P N S E E V S E K D A K Q I I E | T p.680
. . . . . . g.67351
GCTAAGCAAGACGTGGATGATGAATACAGCATGCAGTACAGTGCCAGGGGCTCCCAGTCC c.2100
A K Q D V D D E Y S M Q Y S A R G S Q S p.700
. . . . . . g.67411
TACTACACCGTGGCTCATGCCATCTCGGAGAGGGTGGAGAAACAGTCTGCCCTCCTAATT c.2160
Y Y T V A H A I S E R V E K Q S A L L I p.720
. . | 15 . . . . g.71526
AATGGGACCCTAAAGCATTACCAG | CTCCAGGGCCTGGAATGGATGGTTTCCCTGTATAAT c.2220
N G T L K H Y Q | L Q G L E W M V S L Y N p.740
. . . . . . g.71586
AACAACTTGAACGGAATCTTAGCCGATGAAATGGGGCTTGGAAAGACCATACAGACCATT c.2280
N N L N G I L A D E M G L G K T I Q T I p.760
. . . . . . g.71646
GCACTCATCACTTATCTGATGGAGCACAAAAGACTCAATGGCCCCTATCTCATCATTGTT c.2340
A L I T Y L M E H K R L N G P Y L I I V p.780
| 16 . . . . . g.73057
CCCCTTTC | GACTCTATCTAACTGGACATATGAATTTGACAAATGGGCTCCTTCTGTGGTG c.2400
P L S | T L S N W T Y E F D K W A P S V V p.800
. | 17 . . . . . g.73789
AAGATTTCTTACAAG | GGTACTCCTGCCATGCGTCGCTCCCTTGTCCCCCAGCTACGGAGT c.2460
K I S Y K | G T P A M R R S L V P Q L R S p.820
. . . . . . g.73849
GGCAAATTCAATGTCCTCTTGACTACTTATGAGTATATTATAAAAGACAAGCACATTCTT c.2520
G K F N V L L T T Y E Y I I K D K H I L p.840
| 18 . . . . . . g.76541
GCAAAG | ATTCGGTGGAAATACATGATAGTGGACGAAGGCCACCGAATGAAGAATCACCAC c.2580
A K | I R W K Y M I V D E G H R M K N H H p.860
. . . . . . g.76601
TGCAAGCTGACTCAGGTCTTGAACACTCACTATGTGGCCCCCAGAAGGATCCTCTTGACT c.2640
C K L T Q V L N T H Y V A P R R I L L T p.880
. . . . . . g.76661
GGGACCCCGCTGCAGAATAAGCTCCCTGAACTCTGGGCCCTCCTCAACTTCCTCCTCCCA c.2700
G T P L Q N K L P E L W A L L N F L L P p.900
. . . . . . g.76721
ACAATTTTTAAGAGCTGCAGCACATTTGAACAATGGTTCAATGCTCCATTTGCCATGACT c.2760
T I F K S C S T F E Q W F N A P F A M T p.920
| 19 . . . . . g.78209
GGTGAAAGG | GTGGACTTAAATGAAGAAGAAACTATATTGATCATCAGGCGTCTACATAAG c.2820
G E R | V D L N E E E T I L I I R R L H K p.940
. . . . . . g.78269
GTGTTAAGACCATTTTTACTAAGGAGACTGAAGAAAGAAGTTGAATCCCAGCTTCCCGAA c.2880
V L R P F L L R R L K K E V E S Q L P E p.960
| 20 . . . . . . g.86372
AAA | GTGGAATATGTGATCAAGTGTGACATGTCAGCTCTGCAGAAGATTCTGTATCGCCAT c.2940
K | V E Y V I K C D M S A L Q K I L Y R H p.980
. . . . . | 21 . g.87052
ATGCAAGCCAAGGGGATCCTTCTCACAGATGGTTCTGAGAAAGATAAGAAG | GGGAAAGGA c.3000
M Q A K G I L L T D G S E K D K K | G K G p.1000
. . . . . . g.87112
GGTGCTAAGACACTTATGAACACTATTATGCAGTTGAGAAAAATCTGCAACCACCCATAT c.3060
G A K T L M N T I M Q L R K I C N H P Y p.1020
. | 22 . . . . g.91270
ATGTTTCAGCACATTGAG | GAATCCTTTGCTGAACACCTAGGCTATTCAAATGGGGTCATC c.3120
M F Q H I E | E S F A E H L G Y S N G V I p.1040
| 23 . . . . . . g.93716
AATGG | GGCTGAACTGTATCGGGCCTCAGGGAAGTTTGAGCTGCTTGATCGTATTCTGCCA c.3180
N G | A E L Y R A S G K F E L L D R I L P p.1060
. . . . . . g.93776
AAATTGAGAGCGACTAATCACCGAGTGCTGCTTTTCTGCCAGATGACATCTCTCATGACC c.3240
K L R A T N H R V L L F C Q M T S L M T p.1080
. . . . . | 24 . g.99920
ATCATGGAGGATTATTTTGCTTTTCGGAACTTCCTTTACCTACGCCTTGATG | GCACCACC c.3300
I M E D Y F A F R N F L Y L R L D G | T T p.1100
. . . . . . g.99980
AAGTCTGAAGATCGTGCTGCTTTGCTGAAGAAATTCAATGAACCTGGATCCCAGTATTTC c.3360
K S E D R A A L L K K F N E P G S Q Y F p.1120
. . . . . . g.100040
ATTTTCTTGCTGAGCACAAGAGCTGGTGGCCTGGGCTTAAATCTTCAGGCAGCTGATACA c.3420
I F L L S T R A G G L G L N L Q A A D T p.1140
. . . | 25 . . . g.105504
GTGGTCATCTTTGACAGCGACTGGAATCCTCATCAG | GATCTGCAGGCCCAAGACCGAGCT c.3480
V V I F D S D W N P H Q | D L Q A Q D R A p.1160
. . . . . . g.105564
CACCGCATCGGGCAGCAGAACGAGGTCCGGGTACTGAGGCTCTGTACCGTGAACAGCGTG c.3540
H R I G Q Q N E V R V L R L C T V N S V p.1180
. . . . . . g.105624
GAGGAAAAGATCCTCGCGGCCGCAAAATACAAGCTGAACGTGGATCAGAAAGTGATCCAG c.3600
E E K I L A A A K Y K L N V D Q K V I Q p.1200
. . . . . . g.105684
GCGGGCATGTTTGACCAAAAGTCTTCAAGCCACGAGCGGAGGGCATTCCTGCAGGCCATC c.3660
A G M F D Q K S S S H E R R A F L Q A I p.1220
. . | 26 . . . . g.109152
TTGGAGCATGAGGAGGAAAATGAG | GAAGAAGATGAAGTACCGGACGATGAGACTCTGAAC c.3720
L E H E E E N E | E E D E V P D D E T L N p.1240
. . . . | 27 . . g.113395
CAAATGATTGCTCGACGAGAAGAAGAATTTGACCTTTTTATG | CGGATGGACATGGACCGG c.3780
Q M I A R R E E E F D L F M | R M D M D R p.1260
. . . . . . g.113455
CGGAGGGAAGATGCCCGGAACCCGAAACGGAAGCCCCGTTTAATGGAGGAGGATGAGCTG c.3840
R R E D A R N P K R K P R L M E E D E L p.1280
. . . . . . g.113515
CCCTCCTGGATCATTAAGGATGACGCTGAAGTAGAAAGGCTCACCTGTGAAGAAGAGGAG c.3900
P S W I I K D D A E V E R L T C E E E E p.1300
. . . . . . g.113575
GAGAAAATATTTGGGAGGGGGTCCCGCCAGCGCCGTGACGTGGACTACAGTGACGCCCTC c.3960
E K I F G R G S R Q R R D V D Y S D A L p.1320
. . | 28 . . . . g.151383
ACGGAGAAGCAGTGGCTAAGG | GCCATCGAAGACGGCAATTTGGAGGAAATGGAAGAGGAA c.4020
T E K Q W L R | A I E D G N L E E M E E E p.1340
. . . . . . g.151443
GTACGGCTTAAGAAGCGAAAAAGACGAAGAAATGTGGATAAAGATCCTGCAAAAGAAGAT c.4080
V R L K K R K R R R N V D K D P A K E D p.1360
. . . . . . g.151503
GTGGAAAAAGCTAAGAAGAGAAGAGGCCGCCCTCCCGCTGAGAAACTGTCACCAAATCCC c.4140
V E K A K K R R G R P P A E K L S P N P p.1380
. . . . . | 29 g.160078
CCCAAACTGACAAAGCAGATGAACGCTATCATCGATACTGTGATAAACTACAAAGATAG | G c.4200
P K L T K Q M N A I I D T V I N Y K D R | p.1400
. . . . . | 30 . g.171236
TGTAACGTGGAGAAGGTGCCCAGTAATTCTCAGTTGGAAATAGAAGGAAACAG | TTCAGGG c.4260
C N V E K V P S N S Q L E I E G N S | S G p.1420
. . . . . . g.171296
CGACAGCTCAGTGAAGTCTTCATTCAGTTACCTTCAAGGAAAGAATTACCAGAATACTAT c.4320
R Q L S E V F I Q L P S R K E L P E Y Y p.1440
. . . | 31 . . g.171820
GAATTAATTAGGAAGCCAGTGGATTTCAAAAAAATAAAG | GAAAGGATTCGTAATCATAAG c.4380
E L I R K P V D F K K I K | E R I R N H K p.1460
. . . . . . g.171880
TACCGGAGCCTAGGCGACCTGGAGAAGGATGTCATGCTTCTCTGTCACAACGCTCAGACG c.4440
Y R S L G D L E K D V M L L C H N A Q T p.1480
. . | 32 . . . . g.175793
TTCAACCTGGAGGGATCCCAG | ATCTATGAAGACTCCATCGTCTTACAGTCAGTGTTTAAG c.4500
F N L E G S Q | I Y E D S I V L Q S V F K p.1500
. . . . . . g.175853
AGTGCCCGGCAGAAAATTGCCAAAGAGGAAGAGAGTGAGGATGAAAGCAATGAAGAGGAG c.4560
S A R Q K I A K E E E S E D E S N E E E p.1520
. . . | 33 . . . g.180950
GAAGAGGAAGATGAAGAAGAGTCAGAGTCCGAGG | CAAAATCAGTCAAGGTGAAAATTAAG c.4620
E E E D E E E S E S E A | K S V K V K I K p.1540
. . . . . . g.181010
CTCAATAAAAAAGATGACAAAGGCCGGGACAAAGGGAAAGGCAAGAAAAGGCCAAATCGA c.4680
L N K K D D K G R D K G K G K K R P N R p.1560
. . . . . | 34. g.182365
GGAAAAGCCAAACCTGTAGTGAGCGATTTTGACAGCGATGAGGAGCAGGATGAACGT | GAA c.4740
G K A K P V V S D F D S D E E Q D E R | E p.1580
. . . g.182398
CAGTCAGAAGGAAGTGGGACGGATGATGAGTGA c.4773
Q S E G S G T D D E X p.1590
. . . . . . g.182458
tcagtatggacctttttccttggtagaactgaattccttcctcccctgtctcatttctac c.*60
. . . . . . g.182518
ccagtgagttcatttgtcatataggcactgggttgtttctatatcatcatcgtctataaa c.*120
. . . . . . g.182578
ctagctttaggatagtgccagacaaacatatgatatcatggtgtaaaaaacacacacata c.*180
. . . . . . g.182638
cacaaatatttgtaacatattgtgaccaaatgggcctcaaagattcagattgaaacaaac c.*240
. . . . . . g.182698
aaaaagcttttgatggaaaatatgtgggtggatagtatatttctatgggtgggtctaatt c.*300
. . . . . . g.182758
tggtaacggtttgattgtgcctggttttatcacctgttcagatgagaagatttttgtctt c.*360
. . . . . . g.182818
ttgtagcactgataaccaggagaagccattaaaagccactggttattttatttttcatca c.*420
. . . . . . g.182878
ggcaattttcgaggtttttatttgttcggtattgtttttttacactgtggtacatataag c.*480
. . . . . . g.182938
caactttaataggtgataaatgtacagtagttagatttcacctgcatatacatttttcca c.*540
. . . . . . g.182998
ttttatgctctatgatctgaacaaaagctttttgaattgtataagatttatgtctactgt c.*600
. . . . . . g.183058
aaacattgcttaatttttttgctcttgatttaaaaaaaagttttgttgaaagcgctattg c.*660
. . . . . . g.183118
aatattgcaatctatatagtgtattggatggcttcttttgtcaccctgatctcctatgtt c.*720
. . . . . . g.183178
accaatgtgtatcgtctccttctccctaaagtgtacttaatctttgctttctttgcacaa c.*780
. . . . . . g.183238
tgtctttggttgcaagtcataagcctgaggcaaataaaattccagtaatttcgaagaatg c.*840
. . . . g.183283
tggtgttggtgctttcctaataaagaaataatttagcttgacaaa c.*885
(downstream sequence)
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