Canonical Allele Identifier: CA345392374

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236925837C>G (hg19) ; chr1:g.236762537C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762537C>G , CM000663.2:g.236762537C>G	GRCh38
NC_000001.10:g.236925837C>G , CM000663.1:g.236925837C>G	GRCh37
NC_000001.9:g.234992460C>G	NCBI36
NG_009081.1:g.81068C>G
NG_009081.2:g.103397C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2603C>G	ENSP00000443495.1:p.Ala868Gly
ENST00000461367.2:n.899C>G
ENST00000492634.7:n.2533C>G
ENST00000682015.1:c.2510C>G	ENSP00000506961.1:p.Ala837Gly
ENST00000682490.1:n.521C>G
ENST00000682692.1:n.3698C>G
ENST00000682966.1:n.8244C>G
ENST00000683111.1:c.*1889C>G	ENSP00000507913.1:n.*1889C>G
ENST00000683322.1:n.3955C>G
ENST00000683805.1:n.1394C>G
ENST00000684050.1:n.5241C>G
ENST00000684122.1:n.2037C>G
ENST00000684286.1:n.4158C>G
ENST00000684502.1:n.3900C>G
ENST00000684763.1:n.1218C>G
ENST00000366578.6:c.2603C>G MANE Select	ENSP00000355537.4:p.Ala868Gly
ENST00000492634.6:n.2533C>G
ENST00000542672.6:c.2603C>G	ENSP00000443495.1:p.Ala868Gly
ENST00000651091.1:c.2293C>G	ENSP00000498677.1:n.2293C>G
ENST00000651275.1:c.2495C>G	ENSP00000498926.1:p.Ala832Gly
ENST00000651781.1:c.1683C>G
ENST00000651786.1:c.*1975C>G	ENSP00000498364.1:n.*1975C>G
ENST00000652096.1:c.*2008C>G	ENSP00000498896.1:n.*2008C>G
ENST00000366578.5:c.2603C>G	ENSP00000355537.4:p.Ala868Gly
ENST00000461367.1:n.812C>G
ENST00000542672.5:c.2603C>G	ENSP00000443495.1:p.Ala868Gly
ENST00000546208.5:c.1979C>G	ENSP00000438384.2:p.Ala660Gly
NM_001103.3:c.2603C>G	NP_001094.1:p.Ala868Gly
NM_001278343.1:c.2603C>G	NP_001265272.1:p.Ala868Gly
NM_001278344.1:c.1979C>G	NP_001265273.1:p.Ala660Gly
NM_001278343.2:c.2603C>G	NP_001265272.1:p.Ala868Gly
NM_001103.4:c.2603C>G MANE Select	NP_001094.1:p.Ala868Gly
NM_001278344.2:c.1979C>G	NP_001265273.1:p.Ala660Gly