Canonical Allele Identifier: CA372789032

Gene: SMARCA2

Linked Data

• dbSNP Id: rs1314729940
• gnomAD v2: 9-2116003-G-A
• gnomAD v3: 9-2116003-G-A
• gnomAD v4: 9-2116003-G-A
• MyVariant Identifiers: chr9:g.2116003G>A (hg19) ; chr9:g.2116003G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2116003G>A , CM000671.2:g.2116003G>A	GRCh38
NC_000009.11:g.2116003G>A , CM000671.1:g.2116003G>A	GRCh37
NC_000009.10:g.2106003G>A	NCBI36
NG_032162.1:g.105662G>A
NG_032162.2:g.140714G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704350.1:c.3278G>A	ENSP00000515861.1:p.Arg1093Gln
ENST00000704352.1:c.1174-45683G>A	ENSP00000515863.1:n.1174-45683G>A
ENST00000704353.1:c.1174-45683G>A	ENSP00000515864.1:n.1174-45683G>A
ENST00000704354.1:c.3622G>A
ENST00000704355.1:c.2002G>A
ENST00000349721.8:c.3638G>A MANE Select	ENSP00000265773.5:p.Arg1213Gln
ENST00000357248.8:c.3638G>A	ENSP00000349788.2:p.Arg1213Gln
ENST00000635739.1:n.2306G>A
ENST00000636157.1:n.1245G>A
ENST00000638139.1:n.672G>A
ENST00000349721.7:c.3638G>A	ENSP00000265773.5:p.Arg1213Gln
ENST00000357248.7:c.3638G>A	ENSP00000349788.2:p.Arg1213Gln
ENST00000382194.6:c.3638G>A	ENSP00000371629.1:p.Arg1213Gln
ENST00000382203.5:c.3638G>A	ENSP00000371638.1:p.Arg1213Gln
ENST00000450198.6:c.3464G>A	ENSP00000392081.2:p.Arg1155Gln
ENST00000634760.1:c.3638G>A	ENSP00000489256.1:p.Arg1213Gln
ENST00000634772.1:c.62-3455G>A
ENST00000634925.1:n.1129G>A
NM_001289396.1:c.3638G>A	NP_001276325.1:p.Arg1213Gln
NM_001289397.1:c.3464G>A	NP_001276326.1:p.Arg1155Gln
NM_003070.4:c.3638G>A	NP_003061.3:p.Arg1213Gln
NM_139045.3:c.3638G>A	NP_620614.2:p.Arg1213Gln
NM_003070.5:c.3638G>A MANE Select	NP_003061.3:p.Arg1213Gln
NM_001289397.2:c.3464G>A	NP_001276326.1:p.Arg1155Gln
NM_139045.4:c.3638G>A	NP_620614.2:p.Arg1213Gln