Canonical Allele Identifier: CA345386938

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236917337G>T (hg19) ; chr1:g.236754037G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236754037G>T , CM000663.2:g.236754037G>T	GRCh38
NC_000001.10:g.236917337G>T , CM000663.1:g.236917337G>T	GRCh37
NC_000001.9:g.234983960G>T	NCBI36
NG_009081.1:g.72568G>T
NG_009081.2:g.94897G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1930G>T	ENSP00000443495.1:p.Ala644Ser
ENST00000461367.2:n.226G>T
ENST00000492634.7:n.1860G>T
ENST00000682015.1:c.1837G>T	ENSP00000506961.1:p.Ala613Ser
ENST00000682692.1:n.3025G>T
ENST00000682966.1:n.7571G>T
ENST00000683111.1:c.*1216G>T	ENSP00000507913.1:n.*1216G>T
ENST00000683322.1:n.3282G>T
ENST00000684050.1:n.4568G>T
ENST00000684286.1:n.3485G>T
ENST00000684502.1:n.3227G>T
ENST00000684763.1:n.545G>T
ENST00000366578.6:c.1930G>T MANE Select	ENSP00000355537.4:p.Ala644Ser
ENST00000492634.6:n.1860G>T
ENST00000542672.6:c.1930G>T	ENSP00000443495.1:p.Ala644Ser
ENST00000651091.1:c.1620G>T	ENSP00000498677.1:n.1620G>T
ENST00000651275.1:c.1822G>T	ENSP00000498926.1:p.Ala608Ser
ENST00000651781.1:c.1010G>T
ENST00000651786.1:c.*1302G>T	ENSP00000498364.1:n.*1302G>T
ENST00000652096.1:c.*1335G>T	ENSP00000498896.1:n.*1335G>T
ENST00000366578.5:c.1930G>T	ENSP00000355537.4:p.Ala644Ser
ENST00000461367.1:n.139G>T
ENST00000542672.5:c.1930G>T	ENSP00000443495.1:p.Ala644Ser
ENST00000546208.5:c.1306G>T	ENSP00000438384.2:p.Ala436Ser
NM_001103.3:c.1930G>T	NP_001094.1:p.Ala644Ser
NM_001278343.1:c.1930G>T	NP_001265272.1:p.Ala644Ser
NM_001278344.1:c.1306G>T	NP_001265273.1:p.Ala436Ser
NM_001278343.2:c.1930G>T	NP_001265272.1:p.Ala644Ser
NM_001103.4:c.1930G>T MANE Select	NP_001094.1:p.Ala644Ser
NM_001278344.2:c.1306G>T	NP_001265273.1:p.Ala436Ser