Canonical Allele Identifier: CA1473516

Gene: ACTN2

Linked Data

• dbSNP Id: rs754961446
• ExAC: 1:236925932 G / T
• gnomAD v2: 1-236925932-G-T
• gnomAD v3: 1-236762632-G-T
• gnomAD v4: 1-236762632-G-T
• MyVariant Identifiers: chr1:g.236925932G>T (hg19) ; chr1:g.236762632G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762632G>T , CM000663.2:g.236762632G>T	GRCh38
NC_000001.10:g.236925932G>T , CM000663.1:g.236925932G>T	GRCh37
NC_000001.9:g.234992555G>T	NCBI36
NG_009081.1:g.81163G>T
NG_009081.2:g.103492G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.*13G>T	ENSP00000443495.1:n.*13G>T
ENST00000461367.2:n.994G>T
ENST00000492634.7:n.2628G>T
ENST00000682015.1:c.*13G>T	ENSP00000506961.1:n.*13G>T
ENST00000682490.1:n.616G>T
ENST00000682692.1:n.3793G>T
ENST00000682966.1:n.8339G>T
ENST00000683111.1:c.*1984G>T	ENSP00000507913.1:n.*1984G>T
ENST00000683322.1:n.4050G>T
ENST00000683805.1:n.1489G>T
ENST00000684050.1:n.5336G>T
ENST00000684122.1:n.2132G>T
ENST00000684286.1:n.4253G>T
ENST00000684502.1:n.3995G>T
ENST00000684763.1:n.1313G>T
ENST00000366578.6:c.*13G>T MANE Select	ENSP00000355537.4:n.*13G>T
ENST00000492634.6:n.2628G>T
ENST00000542672.6:c.*13G>T	ENSP00000443495.1:n.*13G>T
ENST00000651275.1:c.2590G>T	ENSP00000498926.1:n.2590G>T
ENST00000651781.1:c.1778G>T
ENST00000651786.1:c.*2070G>T	ENSP00000498364.1:n.*2070G>T
ENST00000652096.1:c.*2103G>T	ENSP00000498896.1:n.*2103G>T
ENST00000366578.5:c.*13G>T	ENSP00000355537.4:n.*13G>T
ENST00000542672.5:c.*13G>T	ENSP00000443495.1:n.*13G>T
ENST00000546208.5:c.*13G>T	ENSP00000438384.2:n.*13G>T
NM_001103.3:c.*13G>T	NP_001094.1:n.*13G>T
NM_001278343.1:c.*13G>T	NP_001265272.1:n.*13G>T
NM_001278344.1:c.*13G>T	NP_001265273.1:n.*13G>T
NM_001278343.2:c.*13G>T	NP_001265272.1:n.*13G>T
NM_001103.4:c.*13G>T MANE Select	NP_001094.1:n.*13G>T
NM_001278344.2:c.*13G>T	NP_001265273.1:n.*13G>T