Canonical Allele Identifier: CA463852720

Gene: SMARCA2

Linked Data

• dbSNP Id: rs1823195968
• gnomAD v3: 9-2115905-G-A
• gnomAD v4: 9-2115905-G-A
• MyVariant Identifiers: chr9:g.2115905G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2115905G>A , CM000671.2:g.2115905G>A	GRCh38
NC_000009.11:g.2115905G>A , CM000671.1:g.2115905G>A	GRCh37
NC_000009.10:g.2105905G>A	NCBI36
NG_032162.1:g.105564G>A
NG_032162.2:g.140616G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704350.1:c.3180G>A	ENSP00000515861.1:p.Val1060=
ENST00000704352.1:c.1174-45781G>A	ENSP00000515863.1:n.1174-45781G>A
ENST00000704353.1:c.1174-45781G>A	ENSP00000515864.1:n.1174-45781G>A
ENST00000704354.1:c.3524G>A
ENST00000704355.1:c.1904G>A
ENST00000349721.8:c.3540G>A MANE Select	ENSP00000265773.5:p.Val1180=
ENST00000357248.8:c.3540G>A	ENSP00000349788.2:p.Val1180=
ENST00000635739.1:n.2208G>A
ENST00000636157.1:n.1147G>A
ENST00000638139.1:n.574G>A
ENST00000349721.7:c.3540G>A	ENSP00000265773.5:p.Val1180=
ENST00000357248.7:c.3540G>A	ENSP00000349788.2:p.Val1180=
ENST00000382194.6:c.3540G>A	ENSP00000371629.1:p.Val1180=
ENST00000382203.5:c.3540G>A	ENSP00000371638.1:p.Val1180=
ENST00000450198.6:c.3366G>A	ENSP00000392081.2:p.Val1122=
ENST00000634760.1:c.3540G>A	ENSP00000489256.1:p.Val1180=
ENST00000634772.1:c.62-3553G>A
ENST00000634925.1:n.1031G>A
NM_001289396.1:c.3540G>A	NP_001276325.1:p.Val1180=
NM_001289397.1:c.3366G>A	NP_001276326.1:p.Val1122=
NM_003070.4:c.3540G>A	NP_003061.3:p.Val1180=
NM_139045.3:c.3540G>A	NP_620614.2:p.Val1180=
NM_003070.5:c.3540G>A MANE Select	NP_003061.3:p.Val1180=
NM_001289397.2:c.3366G>A	NP_001276326.1:p.Val1122=
NM_139045.4:c.3540G>A	NP_620614.2:p.Val1180=