Canonical Allele Identifier: CA372789129

Gene: SMARCA2

Linked Data

• dbSNP Id: rs1184846587
• gnomAD v2: 9-2116045-A-C
• MyVariant Identifiers: chr9:g.2116045A>C (hg19) ; chr9:g.2116045A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2116045A>C , CM000671.2:g.2116045A>C	GRCh38
NC_000009.11:g.2116045A>C , CM000671.1:g.2116045A>C	GRCh37
NC_000009.10:g.2106045A>C	NCBI36
NG_032162.1:g.105704A>C
NG_032162.2:g.140756A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704350.1:c.3320A>C	ENSP00000515861.1:p.Asn1107Thr
ENST00000704352.1:c.1174-45641A>C	ENSP00000515863.1:n.1174-45641A>C
ENST00000704353.1:c.1174-45641A>C	ENSP00000515864.1:n.1174-45641A>C
ENST00000704354.1:c.3664A>C
ENST00000704355.1:c.2044A>C
ENST00000349721.8:c.3680A>C MANE Select	ENSP00000265773.5:p.Asn1227Thr
ENST00000357248.8:c.3680A>C	ENSP00000349788.2:p.Asn1227Thr
ENST00000635739.1:n.2348A>C
ENST00000636157.1:n.1287A>C
ENST00000638139.1:n.714A>C
ENST00000349721.7:c.3680A>C	ENSP00000265773.5:p.Asn1227Thr
ENST00000357248.7:c.3680A>C	ENSP00000349788.2:p.Asn1227Thr
ENST00000382194.6:c.3680A>C	ENSP00000371629.1:p.Asn1227Thr
ENST00000382203.5:c.3680A>C	ENSP00000371638.1:p.Asn1227Thr
ENST00000450198.6:c.3506A>C	ENSP00000392081.2:p.Asn1169Thr
ENST00000634760.1:c.3680A>C	ENSP00000489256.1:p.Asn1227Thr
ENST00000634772.1:c.62-3413A>C
ENST00000634925.1:n.1171A>C
NM_001289396.1:c.3680A>C	NP_001276325.1:p.Asn1227Thr
NM_001289397.1:c.3506A>C	NP_001276326.1:p.Asn1169Thr
NM_003070.4:c.3680A>C	NP_003061.3:p.Asn1227Thr
NM_139045.3:c.3680A>C	NP_620614.2:p.Asn1227Thr
NM_003070.5:c.3680A>C MANE Select	NP_003061.3:p.Asn1227Thr
NM_001289397.2:c.3506A>C	NP_001276326.1:p.Asn1169Thr
NM_139045.4:c.3680A>C	NP_620614.2:p.Asn1227Thr