Canonical Allele Identifier: CA345392691

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236925900A>T (hg19) ; chr1:g.236762600A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762600A>T , CM000663.2:g.236762600A>T	GRCh38
NC_000001.10:g.236925900A>T , CM000663.1:g.236925900A>T	GRCh37
NC_000001.9:g.234992523A>T	NCBI36
NG_009081.1:g.81131A>T
NG_009081.2:g.103460A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2666A>T	ENSP00000443495.1:p.Tyr889Phe
ENST00000461367.2:n.962A>T
ENST00000492634.7:n.2596A>T
ENST00000682015.1:c.2573A>T	ENSP00000506961.1:p.Tyr858Phe
ENST00000682490.1:n.584A>T
ENST00000682692.1:n.3761A>T
ENST00000682966.1:n.8307A>T
ENST00000683111.1:c.*1952A>T	ENSP00000507913.1:n.*1952A>T
ENST00000683322.1:n.4018A>T
ENST00000683805.1:n.1457A>T
ENST00000684050.1:n.5304A>T
ENST00000684122.1:n.2100A>T
ENST00000684286.1:n.4221A>T
ENST00000684502.1:n.3963A>T
ENST00000684763.1:n.1281A>T
ENST00000366578.6:c.2666A>T MANE Select	ENSP00000355537.4:p.Tyr889Phe
ENST00000492634.6:n.2596A>T
ENST00000542672.6:c.2666A>T	ENSP00000443495.1:p.Tyr889Phe
ENST00000651275.1:c.2558A>T	ENSP00000498926.1:p.Tyr853Phe
ENST00000651781.1:c.1746A>T
ENST00000651786.1:c.*2038A>T	ENSP00000498364.1:n.*2038A>T
ENST00000652096.1:c.*2071A>T	ENSP00000498896.1:n.*2071A>T
ENST00000366578.5:c.2666A>T	ENSP00000355537.4:p.Tyr889Phe
ENST00000542672.5:c.2666A>T	ENSP00000443495.1:p.Tyr889Phe
ENST00000546208.5:c.2042A>T	ENSP00000438384.2:p.Tyr681Phe
NM_001103.3:c.2666A>T	NP_001094.1:p.Tyr889Phe
NM_001278343.1:c.2666A>T	NP_001265272.1:p.Tyr889Phe
NM_001278344.1:c.2042A>T	NP_001265273.1:p.Tyr681Phe
NM_001278343.2:c.2666A>T	NP_001265272.1:p.Tyr889Phe
NM_001103.4:c.2666A>T MANE Select	NP_001094.1:p.Tyr889Phe
NM_001278344.2:c.2042A>T	NP_001265273.1:p.Tyr681Phe