Canonical Allele Identifier: CA372790161

Gene: SMARCA2

Linked Data

• ClinVar Variation Id: 2760145
• ClinVar RCV Id: RCV003572028
• MyVariant Identifiers: chr9:g.2123726A>C (hg19) ; chr9:g.2123726A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2123726A>C , CM000671.2:g.2123726A>C	GRCh38
NC_000009.11:g.2123726A>C , CM000671.1:g.2123726A>C	GRCh37
NC_000009.10:g.2113726A>C	NCBI36
NG_032162.1:g.113385A>C
NG_032162.2:g.148437A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000704350.1:c.3410A>C	ENSP00000515861.1:p.Asp1137Ala
ENST00000704352.1:c.1174-37960A>C	ENSP00000515863.1:n.1174-37960A>C
ENST00000704353.1:c.1174-37960A>C	ENSP00000515864.1:n.1174-37960A>C
ENST00000704354.1:c.3754A>C
ENST00000704355.1:c.2134A>C
ENST00000349721.8:c.3770A>C MANE Select	ENSP00000265773.5:p.Asp1257Ala
ENST00000357248.8:c.3770A>C	ENSP00000349788.2:p.Asp1257Ala
ENST00000635739.1:n.2438A>C
ENST00000636157.1:n.1377A>C
ENST00000638139.1:n.804A>C
ENST00000349721.7:c.3770A>C	ENSP00000265773.5:p.Asp1257Ala
ENST00000357248.7:c.3770A>C	ENSP00000349788.2:p.Asp1257Ala
ENST00000382194.6:c.3770A>C	ENSP00000371629.1:p.Asp1257Ala
ENST00000382203.5:c.3770A>C	ENSP00000371638.1:p.Asp1257Ala
ENST00000450198.6:c.3596A>C	ENSP00000392081.2:p.Asp1199Ala
ENST00000634760.1:c.3770A>C	ENSP00000489256.1:p.Asp1257Ala
ENST00000634772.1:c.147A>C
ENST00000634925.1:n.1261A>C
NM_001289396.1:c.3770A>C	NP_001276325.1:p.Asp1257Ala
NM_001289397.1:c.3596A>C	NP_001276326.1:p.Asp1199Ala
NM_003070.4:c.3770A>C	NP_003061.3:p.Asp1257Ala
NM_139045.3:c.3770A>C	NP_620614.2:p.Asp1257Ala
NM_003070.5:c.3770A>C MANE Select	NP_003061.3:p.Asp1257Ala
NM_001289397.2:c.3596A>C	NP_001276326.1:p.Asp1199Ala
NM_139045.4:c.3770A>C	NP_620614.2:p.Asp1257Ala