Canonical Allele Identifier: CA1473512

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 573987
• ClinVar RCV Id: RCV000695802 ; RCV002424660
• dbSNP Id: rs536297856
• ExAC: 1:236925902 G / A
• gnomAD v2: 1-236925902-G-A
• gnomAD v3: 1-236762602-G-A
• gnomAD v4: 1-236762602-G-A
• MyVariant Identifiers: chr1:g.236925902G>A (hg19) ; chr1:g.236762602G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762602G>A , CM000663.2:g.236762602G>A	GRCh38
NC_000001.10:g.236925902G>A , CM000663.1:g.236925902G>A	GRCh37
NC_000001.9:g.234992525G>A	NCBI36
NG_009081.1:g.81133G>A
NG_009081.2:g.103462G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2668G>A	ENSP00000443495.1:p.Gly890Arg
ENST00000461367.2:n.964G>A
ENST00000492634.7:n.2598G>A
ENST00000682015.1:c.2575G>A	ENSP00000506961.1:p.Gly859Arg
ENST00000682490.1:n.586G>A
ENST00000682692.1:n.3763G>A
ENST00000682966.1:n.8309G>A
ENST00000683111.1:c.*1954G>A	ENSP00000507913.1:n.*1954G>A
ENST00000683322.1:n.4020G>A
ENST00000683805.1:n.1459G>A
ENST00000684050.1:n.5306G>A
ENST00000684122.1:n.2102G>A
ENST00000684286.1:n.4223G>A
ENST00000684502.1:n.3965G>A
ENST00000684763.1:n.1283G>A
ENST00000366578.6:c.2668G>A MANE Select	ENSP00000355537.4:p.Gly890Arg
ENST00000492634.6:n.2598G>A
ENST00000542672.6:c.2668G>A	ENSP00000443495.1:p.Gly890Arg
ENST00000651275.1:c.2560G>A	ENSP00000498926.1:p.Gly854Arg
ENST00000651781.1:c.1748G>A
ENST00000651786.1:c.*2040G>A	ENSP00000498364.1:n.*2040G>A
ENST00000652096.1:c.*2073G>A	ENSP00000498896.1:n.*2073G>A
ENST00000366578.5:c.2668G>A	ENSP00000355537.4:p.Gly890Arg
ENST00000542672.5:c.2668G>A	ENSP00000443495.1:p.Gly890Arg
ENST00000546208.5:c.2044G>A	ENSP00000438384.2:p.Gly682Arg
NM_001103.3:c.2668G>A	NP_001094.1:p.Gly890Arg
NM_001278343.1:c.2668G>A	NP_001265272.1:p.Gly890Arg
NM_001278344.1:c.2044G>A	NP_001265273.1:p.Gly682Arg
NM_001278343.2:c.2668G>A	NP_001265272.1:p.Gly890Arg
NM_001103.4:c.2668G>A MANE Select	NP_001094.1:p.Gly890Arg
NM_001278344.2:c.2044G>A	NP_001265273.1:p.Gly682Arg