Canonical Allele Identifier: CA372788760

Gene: SMARCA2

Linked Data

• ClinVar Variation Id: 1305100
• ClinVar RCV Id: RCV001773810
• dbSNP Id: rs2130599717
• MyVariant Identifiers: chr9:g.2115884G>T (hg19) ; chr9:g.2115884G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2115884G>T , CM000671.2:g.2115884G>T	GRCh38
NC_000009.11:g.2115884G>T , CM000671.1:g.2115884G>T	GRCh37
NC_000009.10:g.2105884G>T	NCBI36
NG_032162.1:g.105543G>T
NG_032162.2:g.140595G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704350.1:c.3159G>T	ENSP00000515861.1:p.Arg1053Ser
ENST00000704352.1:c.1174-45802G>T	ENSP00000515863.1:n.1174-45802G>T
ENST00000704353.1:c.1174-45802G>T	ENSP00000515864.1:n.1174-45802G>T
ENST00000704354.1:c.3503G>T
ENST00000704355.1:c.1883G>T
ENST00000349721.8:c.3519G>T MANE Select	ENSP00000265773.5:p.Arg1173Ser
ENST00000357248.8:c.3519G>T	ENSP00000349788.2:p.Arg1173Ser
ENST00000635739.1:n.2187G>T
ENST00000636157.1:n.1126G>T
ENST00000638139.1:n.553G>T
ENST00000349721.7:c.3519G>T	ENSP00000265773.5:p.Arg1173Ser
ENST00000357248.7:c.3519G>T	ENSP00000349788.2:p.Arg1173Ser
ENST00000382194.6:c.3519G>T	ENSP00000371629.1:p.Arg1173Ser
ENST00000382203.5:c.3519G>T	ENSP00000371638.1:p.Arg1173Ser
ENST00000450198.6:c.3345G>T	ENSP00000392081.2:p.Arg1115Ser
ENST00000634760.1:c.3519G>T	ENSP00000489256.1:p.Arg1173Ser
ENST00000634772.1:c.62-3574G>T
ENST00000634925.1:n.1010G>T
NM_001289396.1:c.3519G>T	NP_001276325.1:p.Arg1173Ser
NM_001289397.1:c.3345G>T	NP_001276326.1:p.Arg1115Ser
NM_003070.4:c.3519G>T	NP_003061.3:p.Arg1173Ser
NM_139045.3:c.3519G>T	NP_620614.2:p.Arg1173Ser
NM_003070.5:c.3519G>T MANE Select	NP_003061.3:p.Arg1173Ser
NM_001289397.2:c.3345G>T	NP_001276326.1:p.Arg1115Ser
NM_139045.4:c.3519G>T	NP_620614.2:p.Arg1173Ser