Canonical Allele Identifier: CA345392696

Gene: ACTN2

Linked Data

• COSMIC: COSM5556126 ; COSM5556127
• MyVariant Identifiers: chr1:g.236925902G>T (hg19) ; chr1:g.236762602G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762602G>T , CM000663.2:g.236762602G>T	GRCh38
NC_000001.10:g.236925902G>T , CM000663.1:g.236925902G>T	GRCh37
NC_000001.9:g.234992525G>T	NCBI36
NG_009081.1:g.81133G>T
NG_009081.2:g.103462G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2668G>T	ENSP00000443495.1:p.Gly890Trp
ENST00000461367.2:n.964G>T
ENST00000492634.7:n.2598G>T
ENST00000682015.1:c.2575G>T	ENSP00000506961.1:p.Gly859Trp
ENST00000682490.1:n.586G>T
ENST00000682692.1:n.3763G>T
ENST00000682966.1:n.8309G>T
ENST00000683111.1:c.*1954G>T	ENSP00000507913.1:n.*1954G>T
ENST00000683322.1:n.4020G>T
ENST00000683805.1:n.1459G>T
ENST00000684050.1:n.5306G>T
ENST00000684122.1:n.2102G>T
ENST00000684286.1:n.4223G>T
ENST00000684502.1:n.3965G>T
ENST00000684763.1:n.1283G>T
ENST00000366578.6:c.2668G>T MANE Select	ENSP00000355537.4:p.Gly890Trp
ENST00000492634.6:n.2598G>T
ENST00000542672.6:c.2668G>T	ENSP00000443495.1:p.Gly890Trp
ENST00000651275.1:c.2560G>T	ENSP00000498926.1:p.Gly854Trp
ENST00000651781.1:c.1748G>T
ENST00000651786.1:c.*2040G>T	ENSP00000498364.1:n.*2040G>T
ENST00000652096.1:c.*2073G>T	ENSP00000498896.1:n.*2073G>T
ENST00000366578.5:c.2668G>T	ENSP00000355537.4:p.Gly890Trp
ENST00000542672.5:c.2668G>T	ENSP00000443495.1:p.Gly890Trp
ENST00000546208.5:c.2044G>T	ENSP00000438384.2:p.Gly682Trp
NM_001103.3:c.2668G>T	NP_001094.1:p.Gly890Trp
NM_001278343.1:c.2668G>T	NP_001265272.1:p.Gly890Trp
NM_001278344.1:c.2044G>T	NP_001265273.1:p.Gly682Trp
NM_001278343.2:c.2668G>T	NP_001265272.1:p.Gly890Trp
NM_001103.4:c.2668G>T MANE Select	NP_001094.1:p.Gly890Trp
NM_001278344.2:c.2044G>T	NP_001265273.1:p.Gly682Trp