Canonical Allele Identifier: CA39740752

Gene: ACTN2

Linked Data

• dbSNP Id: rs955108317
• gnomAD v3: 1-236754062-G-A
• gnomAD v4: 1-236754062-G-A
• MyVariant Identifiers: chr1:g.236917362G>A (hg19) ; chr1:g.236754062G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236754062G>A , CM000663.2:g.236754062G>A	GRCh38
NC_000001.10:g.236917362G>A , CM000663.1:g.236917362G>A	GRCh37
NC_000001.9:g.234983985G>A	NCBI36
NG_009081.1:g.72593G>A
NG_009081.2:g.94922G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1955G>A	ENSP00000443495.1:p.Trp652Ter
ENST00000461367.2:n.251G>A
ENST00000492634.7:n.1885G>A
ENST00000682015.1:c.1862G>A	ENSP00000506961.1:p.Trp621Ter
ENST00000682692.1:n.3050G>A
ENST00000682966.1:n.7596G>A
ENST00000683111.1:c.*1241G>A	ENSP00000507913.1:n.*1241G>A
ENST00000683322.1:n.3307G>A
ENST00000684050.1:n.4593G>A
ENST00000684286.1:n.3510G>A
ENST00000684502.1:n.3252G>A
ENST00000684763.1:n.570G>A
ENST00000366578.6:c.1955G>A MANE Select	ENSP00000355537.4:p.Trp652Ter
ENST00000492634.6:n.1885G>A
ENST00000542672.6:c.1955G>A	ENSP00000443495.1:p.Trp652Ter
ENST00000651091.1:c.1645G>A	ENSP00000498677.1:n.1645G>A
ENST00000651275.1:c.1847G>A	ENSP00000498926.1:p.Trp616Ter
ENST00000651781.1:c.1035G>A
ENST00000651786.1:c.*1327G>A	ENSP00000498364.1:n.*1327G>A
ENST00000652096.1:c.*1360G>A	ENSP00000498896.1:n.*1360G>A
ENST00000366578.5:c.1955G>A	ENSP00000355537.4:p.Trp652Ter
ENST00000461367.1:n.164G>A
ENST00000542672.5:c.1955G>A	ENSP00000443495.1:p.Trp652Ter
ENST00000546208.5:c.1331G>A	ENSP00000438384.2:p.Trp444Ter
NM_001103.3:c.1955G>A	NP_001094.1:p.Trp652Ter
NM_001278343.1:c.1955G>A	NP_001265272.1:p.Trp652Ter
NM_001278344.1:c.1331G>A	NP_001265273.1:p.Trp444Ter
NM_001278343.2:c.1955G>A	NP_001265272.1:p.Trp652Ter
NM_001103.4:c.1955G>A MANE Select	NP_001094.1:p.Trp652Ter
NM_001278344.2:c.1331G>A	NP_001265273.1:p.Trp444Ter