Canonical Allele Identifier: CA463852751

Gene: SMARCA2

Linked Data

• gnomAD v4: 9-2115941-G-A
• MyVariant Identifiers: chr9:g.2115941G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2115941G>A , CM000671.2:g.2115941G>A	GRCh38
NC_000009.11:g.2115941G>A , CM000671.1:g.2115941G>A	GRCh37
NC_000009.10:g.2105941G>A	NCBI36
NG_032162.1:g.105600G>A
NG_032162.2:g.140652G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704350.1:c.3216G>A	ENSP00000515861.1:p.Leu1072=
ENST00000704352.1:c.1174-45745G>A	ENSP00000515863.1:n.1174-45745G>A
ENST00000704353.1:c.1174-45745G>A	ENSP00000515864.1:n.1174-45745G>A
ENST00000704354.1:c.3560G>A
ENST00000704355.1:c.1940G>A
ENST00000349721.8:c.3576G>A MANE Select	ENSP00000265773.5:p.Leu1192=
ENST00000357248.8:c.3576G>A	ENSP00000349788.2:p.Leu1192=
ENST00000635739.1:n.2244G>A
ENST00000636157.1:n.1183G>A
ENST00000638139.1:n.610G>A
ENST00000349721.7:c.3576G>A	ENSP00000265773.5:p.Leu1192=
ENST00000357248.7:c.3576G>A	ENSP00000349788.2:p.Leu1192=
ENST00000382194.6:c.3576G>A	ENSP00000371629.1:p.Leu1192=
ENST00000382203.5:c.3576G>A	ENSP00000371638.1:p.Leu1192=
ENST00000450198.6:c.3402G>A	ENSP00000392081.2:p.Leu1134=
ENST00000634760.1:c.3576G>A	ENSP00000489256.1:p.Leu1192=
ENST00000634772.1:c.62-3517G>A
ENST00000634925.1:n.1067G>A
NM_001289396.1:c.3576G>A	NP_001276325.1:p.Leu1192=
NM_001289397.1:c.3402G>A	NP_001276326.1:p.Leu1134=
NM_003070.4:c.3576G>A	NP_003061.3:p.Leu1192=
NM_139045.3:c.3576G>A	NP_620614.2:p.Leu1192=
NM_003070.5:c.3576G>A MANE Select	NP_003061.3:p.Leu1192=
NM_001289397.2:c.3402G>A	NP_001276326.1:p.Leu1134=
NM_139045.4:c.3576G>A	NP_620614.2:p.Leu1192=