Canonical Allele Identifier: CA187923143

Gene: SMARCA2

Linked Data

• ClinVar Variation Id: 1287712
• ClinVar RCV Id: RCV001710839
• dbSNP Id: rs7048082
• gnomAD v2: 9-2116153-A-C
• gnomAD v3: 9-2116153-A-C
• gnomAD v4: 9-2116153-A-C
• MyVariant Identifiers: chr9:g.2116153A>C (hg19) ; chr9:g.2116153A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2116153A>C , CM000671.2:g.2116153A>C	GRCh38
NC_000009.11:g.2116153A>C , CM000671.1:g.2116153A>C	GRCh37
NC_000009.10:g.2106153A>C	NCBI36
NG_032162.1:g.105812A>C
NG_032162.2:g.140864A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704350.1:c.3324+104A>C	ENSP00000515861.1:n.3324+104A>C
ENST00000704352.1:c.1174-45533A>C	ENSP00000515863.1:n.1174-45533A>C
ENST00000704353.1:c.1174-45533A>C	ENSP00000515864.1:n.1174-45533A>C
ENST00000704354.1:c.3668+104A>C
ENST00000704355.1:c.2048+104A>C
ENST00000349721.8:c.3684+104A>C MANE Select	ENSP00000265773.5:n.3684+104A>C
ENST00000357248.8:c.3684+104A>C	ENSP00000349788.2:n.3684+104A>C
ENST00000635739.1:n.2352+104A>C
ENST00000636157.1:n.1291+104A>C
ENST00000638139.1:n.718+104A>C
ENST00000349721.7:c.3684+104A>C	ENSP00000265773.5:n.3684+104A>C
ENST00000357248.7:c.3684+104A>C	ENSP00000349788.2:n.3684+104A>C
ENST00000382194.6:c.3684+104A>C	ENSP00000371629.1:n.3684+104A>C
ENST00000382203.5:c.3684+104A>C	ENSP00000371638.1:n.3684+104A>C
ENST00000450198.6:c.3510+104A>C	ENSP00000392081.2:n.3510+104A>C
ENST00000634760.1:c.3684+104A>C	ENSP00000489256.1:n.3684+104A>C
ENST00000634772.1:c.62-3305A>C
ENST00000634925.1:n.1175+104A>C
NM_001289396.1:c.3684+104A>C	NP_001276325.1:n.3684+104A>C
NM_001289397.1:c.3510+104A>C	NP_001276326.1:n.3510+104A>C
NM_003070.4:c.3684+104A>C	NP_003061.3:n.3684+104A>C
NM_139045.3:c.3684+104A>C	NP_620614.2:n.3684+104A>C
NM_003070.5:c.3684+104A>C MANE Select	NP_003061.3:n.3684+104A>C
NM_001289397.2:c.3510+104A>C	NP_001276326.1:n.3510+104A>C
NM_139045.4:c.3684+104A>C	NP_620614.2:n.3684+104A>C