Canonical Allele Identifier: CA345392699

Gene: ACTN2

Linked Data

• COSMIC: COSM679992
• MyVariant Identifiers: chr1:g.236925903G>T (hg19) ; chr1:g.236762603G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762603G>T , CM000663.2:g.236762603G>T	GRCh38
NC_000001.10:g.236925903G>T , CM000663.1:g.236925903G>T	GRCh37
NC_000001.9:g.234992526G>T	NCBI36
NG_009081.1:g.81134G>T
NG_009081.2:g.103463G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2669G>T	ENSP00000443495.1:p.Gly890Val
ENST00000461367.2:n.965G>T
ENST00000492634.7:n.2599G>T
ENST00000682015.1:c.2576G>T	ENSP00000506961.1:p.Gly859Val
ENST00000682490.1:n.587G>T
ENST00000682692.1:n.3764G>T
ENST00000682966.1:n.8310G>T
ENST00000683111.1:c.*1955G>T	ENSP00000507913.1:n.*1955G>T
ENST00000683322.1:n.4021G>T
ENST00000683805.1:n.1460G>T
ENST00000684050.1:n.5307G>T
ENST00000684122.1:n.2103G>T
ENST00000684286.1:n.4224G>T
ENST00000684502.1:n.3966G>T
ENST00000684763.1:n.1284G>T
ENST00000366578.6:c.2669G>T MANE Select	ENSP00000355537.4:p.Gly890Val
ENST00000492634.6:n.2599G>T
ENST00000542672.6:c.2669G>T	ENSP00000443495.1:p.Gly890Val
ENST00000651275.1:c.2561G>T	ENSP00000498926.1:p.Gly854Val
ENST00000651781.1:c.1749G>T
ENST00000651786.1:c.*2041G>T	ENSP00000498364.1:n.*2041G>T
ENST00000652096.1:c.*2074G>T	ENSP00000498896.1:n.*2074G>T
ENST00000366578.5:c.2669G>T	ENSP00000355537.4:p.Gly890Val
ENST00000542672.5:c.2669G>T	ENSP00000443495.1:p.Gly890Val
ENST00000546208.5:c.2045G>T	ENSP00000438384.2:p.Gly682Val
NM_001103.3:c.2669G>T	NP_001094.1:p.Gly890Val
NM_001278343.1:c.2669G>T	NP_001265272.1:p.Gly890Val
NM_001278344.1:c.2045G>T	NP_001265273.1:p.Gly682Val
NM_001278343.2:c.2669G>T	NP_001265272.1:p.Gly890Val
NM_001103.4:c.2669G>T MANE Select	NP_001094.1:p.Gly890Val
NM_001278344.2:c.2045G>T	NP_001265273.1:p.Gly682Val