Canonical Allele Identifier: CA4963852

Gene: SMARCA2

Linked Data

• ClinVar Variation Id: 913366
• ClinVar RCV Id: RCV001166956
• dbSNP Id: rs370403102
• ExAC: 9:2123724 G / A
• gnomAD v2: 9-2123724-G-A
• gnomAD v3: 9-2123724-G-A
• gnomAD v4: 9-2123724-G-A
• MyVariant Identifiers: chr9:g.2123724G>A (hg19) ; chr9:g.2123724G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2123724G>A , CM000671.2:g.2123724G>A	GRCh38
NC_000009.11:g.2123724G>A , CM000671.1:g.2123724G>A	GRCh37
NC_000009.10:g.2113724G>A	NCBI36
NG_032162.1:g.113383G>A
NG_032162.2:g.148435G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000704350.1:c.3408G>A	ENSP00000515861.1:p.Met1136Ile
ENST00000704352.1:c.1174-37962G>A	ENSP00000515863.1:n.1174-37962G>A
ENST00000704353.1:c.1174-37962G>A	ENSP00000515864.1:n.1174-37962G>A
ENST00000704354.1:c.3752G>A
ENST00000704355.1:c.2132G>A
ENST00000349721.8:c.3768G>A MANE Select	ENSP00000265773.5:p.Met1256Ile
ENST00000357248.8:c.3768G>A	ENSP00000349788.2:p.Met1256Ile
ENST00000635739.1:n.2436G>A
ENST00000636157.1:n.1375G>A
ENST00000638139.1:n.802G>A
ENST00000349721.7:c.3768G>A	ENSP00000265773.5:p.Met1256Ile
ENST00000357248.7:c.3768G>A	ENSP00000349788.2:p.Met1256Ile
ENST00000382194.6:c.3768G>A	ENSP00000371629.1:p.Met1256Ile
ENST00000382203.5:c.3768G>A	ENSP00000371638.1:p.Met1256Ile
ENST00000450198.6:c.3594G>A	ENSP00000392081.2:p.Met1198Ile
ENST00000634760.1:c.3768G>A	ENSP00000489256.1:p.Met1256Ile
ENST00000634772.1:c.145G>A
ENST00000634925.1:n.1259G>A
NM_001289396.1:c.3768G>A	NP_001276325.1:p.Met1256Ile
NM_001289397.1:c.3594G>A	NP_001276326.1:p.Met1198Ile
NM_003070.4:c.3768G>A	NP_003061.3:p.Met1256Ile
NM_139045.3:c.3768G>A	NP_620614.2:p.Met1256Ile
NM_003070.5:c.3768G>A MANE Select	NP_003061.3:p.Met1256Ile
NM_001289397.2:c.3594G>A	NP_001276326.1:p.Met1198Ile
NM_139045.4:c.3768G>A	NP_620614.2:p.Met1256Ile