Canonical Allele Identifier: CA529526997

Gene: ACTN2

Linked Data

• dbSNP Id: rs1396007060
• gnomAD v2: 1-236925939-C-T
• gnomAD v3: 1-236762639-C-T
• gnomAD v4: 1-236762639-C-T
• MyVariant Identifiers: chr1:g.236925939C>T (hg19) ; chr1:g.236762639C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762639C>T , CM000663.2:g.236762639C>T	GRCh38
NC_000001.10:g.236925939C>T , CM000663.1:g.236925939C>T	GRCh37
NC_000001.9:g.234992562C>T	NCBI36
NG_009081.1:g.81170C>T
NG_009081.2:g.103499C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.*20C>T	ENSP00000443495.1:n.*20C>T
ENST00000461367.2:n.1001C>T
ENST00000492634.7:n.2635C>T
ENST00000682015.1:c.*20C>T	ENSP00000506961.1:n.*20C>T
ENST00000682490.1:n.623C>T
ENST00000682692.1:n.3800C>T
ENST00000682966.1:n.8346C>T
ENST00000683111.1:c.*1991C>T	ENSP00000507913.1:n.*1991C>T
ENST00000683322.1:n.4057C>T
ENST00000683805.1:n.1496C>T
ENST00000684050.1:n.5343C>T
ENST00000684122.1:n.2139C>T
ENST00000684286.1:n.4260C>T
ENST00000684502.1:n.4002C>T
ENST00000684763.1:n.1320C>T
ENST00000366578.6:c.*20C>T MANE Select	ENSP00000355537.4:n.*20C>T
ENST00000492634.6:n.2635C>T
ENST00000542672.6:c.*20C>T	ENSP00000443495.1:n.*20C>T
ENST00000651275.1:c.2597C>T	ENSP00000498926.1:n.2597C>T
ENST00000651781.1:c.1785C>T
ENST00000651786.1:c.*2077C>T	ENSP00000498364.1:n.*2077C>T
ENST00000652096.1:c.*2110C>T	ENSP00000498896.1:n.*2110C>T
ENST00000366578.5:c.*20C>T	ENSP00000355537.4:n.*20C>T
ENST00000542672.5:c.*20C>T	ENSP00000443495.1:n.*20C>T
ENST00000546208.5:c.*20C>T	ENSP00000438384.2:n.*20C>T
NM_001103.3:c.*20C>T	NP_001094.1:n.*20C>T
NM_001278343.1:c.*20C>T	NP_001265272.1:n.*20C>T
NM_001278344.1:c.*20C>T	NP_001265273.1:n.*20C>T
NM_001278343.2:c.*20C>T	NP_001265272.1:n.*20C>T
NM_001103.4:c.*20C>T MANE Select	NP_001094.1:n.*20C>T
NM_001278344.2:c.*20C>T	NP_001265273.1:n.*20C>T