Canonical Allele Identifier: CA372788687

Gene: SMARCA2

Linked Data

• ClinVar Variation Id: 1299136
• ClinVar RCV Id: RCV001727466
• dbSNP Id: rs2130599584
• gnomAD v4: 9-2115855-G-A
• COSMIC: COSM277376 ; COSM277377
• MyVariant Identifiers: chr9:g.2115855G>A (hg19) ; chr9:g.2115855G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2115855G>A , CM000671.2:g.2115855G>A	GRCh38
NC_000009.11:g.2115855G>A , CM000671.1:g.2115855G>A	GRCh37
NC_000009.10:g.2105855G>A	NCBI36
NG_032162.1:g.105514G>A
NG_032162.2:g.140566G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704350.1:c.3130G>A	ENSP00000515861.1:p.Gly1044Arg
ENST00000704352.1:c.1174-45831G>A	ENSP00000515863.1:n.1174-45831G>A
ENST00000704353.1:c.1174-45831G>A	ENSP00000515864.1:n.1174-45831G>A
ENST00000704354.1:c.3474G>A
ENST00000704355.1:c.1854G>A
ENST00000349721.8:c.3490G>A MANE Select	ENSP00000265773.5:p.Gly1164Arg
ENST00000357248.8:c.3490G>A	ENSP00000349788.2:p.Gly1164Arg
ENST00000635739.1:n.2158G>A
ENST00000636157.1:n.1097G>A
ENST00000638139.1:n.524G>A
ENST00000349721.7:c.3490G>A	ENSP00000265773.5:p.Gly1164Arg
ENST00000357248.7:c.3490G>A	ENSP00000349788.2:p.Gly1164Arg
ENST00000382194.6:c.3490G>A	ENSP00000371629.1:p.Gly1164Arg
ENST00000382203.5:c.3490G>A	ENSP00000371638.1:p.Gly1164Arg
ENST00000450198.6:c.3316G>A	ENSP00000392081.2:p.Gly1106Arg
ENST00000634760.1:c.3490G>A	ENSP00000489256.1:p.Gly1164Arg
ENST00000634772.1:c.62-3603G>A
ENST00000634925.1:n.981G>A
NM_001289396.1:c.3490G>A	NP_001276325.1:p.Gly1164Arg
NM_001289397.1:c.3316G>A	NP_001276326.1:p.Gly1106Arg
NM_003070.4:c.3490G>A	NP_003061.3:p.Gly1164Arg
NM_139045.3:c.3490G>A	NP_620614.2:p.Gly1164Arg
NM_003070.5:c.3490G>A MANE Select	NP_003061.3:p.Gly1164Arg
NM_001289397.2:c.3316G>A	NP_001276326.1:p.Gly1106Arg
NM_139045.4:c.3490G>A	NP_620614.2:p.Gly1164Arg