Canonical Allele Identifier: CA372789103

Gene: SMARCA2

Linked Data

• ClinVar Variation Id: 2505577
• ClinVar RCV Id: RCV003234876
• MyVariant Identifiers: chr9:g.2116035G>A (hg19) ; chr9:g.2116035G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2116035G>A , CM000671.2:g.2116035G>A	GRCh38
NC_000009.11:g.2116035G>A , CM000671.1:g.2116035G>A	GRCh37
NC_000009.10:g.2106035G>A	NCBI36
NG_032162.1:g.105694G>A
NG_032162.2:g.140746G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704350.1:c.3310G>A	ENSP00000515861.1:p.Glu1104Lys
ENST00000704352.1:c.1174-45651G>A	ENSP00000515863.1:n.1174-45651G>A
ENST00000704353.1:c.1174-45651G>A	ENSP00000515864.1:n.1174-45651G>A
ENST00000704354.1:c.3654G>A
ENST00000704355.1:c.2034G>A
ENST00000349721.8:c.3670G>A MANE Select	ENSP00000265773.5:p.Glu1224Lys
ENST00000357248.8:c.3670G>A	ENSP00000349788.2:p.Glu1224Lys
ENST00000635739.1:n.2338G>A
ENST00000636157.1:n.1277G>A
ENST00000638139.1:n.704G>A
ENST00000349721.7:c.3670G>A	ENSP00000265773.5:p.Glu1224Lys
ENST00000357248.7:c.3670G>A	ENSP00000349788.2:p.Glu1224Lys
ENST00000382194.6:c.3670G>A	ENSP00000371629.1:p.Glu1224Lys
ENST00000382203.5:c.3670G>A	ENSP00000371638.1:p.Glu1224Lys
ENST00000450198.6:c.3496G>A	ENSP00000392081.2:p.Glu1166Lys
ENST00000634760.1:c.3670G>A	ENSP00000489256.1:p.Glu1224Lys
ENST00000634772.1:c.62-3423G>A
ENST00000634925.1:n.1161G>A
NM_001289396.1:c.3670G>A	NP_001276325.1:p.Glu1224Lys
NM_001289397.1:c.3496G>A	NP_001276326.1:p.Glu1166Lys
NM_003070.4:c.3670G>A	NP_003061.3:p.Glu1224Lys
NM_139045.3:c.3670G>A	NP_620614.2:p.Glu1224Lys
NM_003070.5:c.3670G>A MANE Select	NP_003061.3:p.Glu1224Lys
NM_001289397.2:c.3496G>A	NP_001276326.1:p.Glu1166Lys
NM_139045.4:c.3670G>A	NP_620614.2:p.Glu1224Lys