Canonical Allele Identifier: CA337539

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 216493
• ClinVar RCV Id: RCV000197913 ; RCV000614448 ; RCV001699004 ; RCV002426949
• dbSNP Id: rs533267299
• ExAC: 1:236925803 G / C
• gnomAD v2: 1-236925803-G-C
• gnomAD v3: 1-236762503-G-C
• gnomAD v4: 1-236762503-G-C
• MyVariant Identifiers: chr1:g.236925803G>C (hg19) ; chr1:g.236762503G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762503G>C , CM000663.2:g.236762503G>C	GRCh38
NC_000001.10:g.236925803G>C , CM000663.1:g.236925803G>C	GRCh37
NC_000001.9:g.234992426G>C	NCBI36
NG_009081.1:g.81034G>C
NG_009081.2:g.103363G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2569G>C	ENSP00000443495.1:p.Asp857His
ENST00000461367.2:n.865G>C
ENST00000492634.7:n.2499G>C
ENST00000682015.1:c.2476G>C	ENSP00000506961.1:p.Asp826His
ENST00000682490.1:n.487G>C
ENST00000682692.1:n.3664G>C
ENST00000682966.1:n.8210G>C
ENST00000683111.1:c.*1855G>C	ENSP00000507913.1:n.*1855G>C
ENST00000683322.1:n.3921G>C
ENST00000683805.1:n.1360G>C
ENST00000684050.1:n.5207G>C
ENST00000684122.1:n.2003G>C
ENST00000684286.1:n.4124G>C
ENST00000684502.1:n.3866G>C
ENST00000684763.1:n.1184G>C
ENST00000366578.6:c.2569G>C MANE Select	ENSP00000355537.4:p.Asp857His
ENST00000492634.6:n.2499G>C
ENST00000542672.6:c.2569G>C	ENSP00000443495.1:p.Asp857His
ENST00000651091.1:c.2259G>C	ENSP00000498677.1:n.2259G>C
ENST00000651275.1:c.2461G>C	ENSP00000498926.1:p.Asp821His
ENST00000651781.1:c.1649G>C
ENST00000651786.1:c.*1941G>C	ENSP00000498364.1:n.*1941G>C
ENST00000652096.1:c.*1974G>C	ENSP00000498896.1:n.*1974G>C
ENST00000366578.5:c.2569G>C	ENSP00000355537.4:p.Asp857His
ENST00000461367.1:n.778G>C
ENST00000542672.5:c.2569G>C	ENSP00000443495.1:p.Asp857His
ENST00000546208.5:c.1945G>C	ENSP00000438384.2:p.Asp649His
NM_001103.3:c.2569G>C	NP_001094.1:p.Asp857His
NM_001278343.1:c.2569G>C	NP_001265272.1:p.Asp857His
NM_001278344.1:c.1945G>C	NP_001265273.1:p.Asp649His
NM_001278343.2:c.2569G>C	NP_001265272.1:p.Asp857His
NM_001103.4:c.2569G>C MANE Select	NP_001094.1:p.Asp857His
NM_001278344.2:c.1945G>C	NP_001265273.1:p.Asp649His