Canonical Allele Identifier: CA345392094

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236925777A>G (hg19) ; chr1:g.236762477A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762477A>G , CM000663.2:g.236762477A>G	GRCh38
NC_000001.10:g.236925777A>G , CM000663.1:g.236925777A>G	GRCh37
NC_000001.9:g.234992400A>G	NCBI36
NG_009081.1:g.81008A>G
NG_009081.2:g.103337A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2543A>G	ENSP00000443495.1:p.Glu848Gly
ENST00000461367.2:n.839A>G
ENST00000492634.7:n.2473A>G
ENST00000682015.1:c.2450A>G	ENSP00000506961.1:p.Glu817Gly
ENST00000682490.1:n.461A>G
ENST00000682692.1:n.3638A>G
ENST00000682966.1:n.8184A>G
ENST00000683111.1:c.*1829A>G	ENSP00000507913.1:n.*1829A>G
ENST00000683322.1:n.3895A>G
ENST00000683805.1:n.1334A>G
ENST00000684050.1:n.5181A>G
ENST00000684122.1:n.1977A>G
ENST00000684286.1:n.4098A>G
ENST00000684502.1:n.3840A>G
ENST00000684763.1:n.1158A>G
ENST00000366578.6:c.2543A>G MANE Select	ENSP00000355537.4:p.Glu848Gly
ENST00000492634.6:n.2473A>G
ENST00000542672.6:c.2543A>G	ENSP00000443495.1:p.Glu848Gly
ENST00000651091.1:c.2233A>G	ENSP00000498677.1:n.2233A>G
ENST00000651275.1:c.2435A>G	ENSP00000498926.1:p.Glu812Gly
ENST00000651781.1:c.1623A>G
ENST00000651786.1:c.*1915A>G	ENSP00000498364.1:n.*1915A>G
ENST00000652096.1:c.*1948A>G	ENSP00000498896.1:n.*1948A>G
ENST00000366578.5:c.2543A>G	ENSP00000355537.4:p.Glu848Gly
ENST00000461367.1:n.752A>G
ENST00000542672.5:c.2543A>G	ENSP00000443495.1:p.Glu848Gly
ENST00000546208.5:c.1919A>G	ENSP00000438384.2:p.Glu640Gly
NM_001103.3:c.2543A>G	NP_001094.1:p.Glu848Gly
NM_001278343.1:c.2543A>G	NP_001265272.1:p.Glu848Gly
NM_001278344.1:c.1919A>G	NP_001265273.1:p.Glu640Gly
NM_001278343.2:c.2543A>G	NP_001265272.1:p.Glu848Gly
NM_001103.4:c.2543A>G MANE Select	NP_001094.1:p.Glu848Gly
NM_001278344.2:c.1919A>G	NP_001265273.1:p.Glu640Gly