Canonical Allele Identifier: CA345386986

Gene: ACTN2

Linked Data

• gnomAD v4: 1-236754044-C-G
• MyVariant Identifiers: chr1:g.236917344C>G (hg19) ; chr1:g.236754044C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236754044C>G , CM000663.2:g.236754044C>G	GRCh38
NC_000001.10:g.236917344C>G , CM000663.1:g.236917344C>G	GRCh37
NC_000001.9:g.234983967C>G	NCBI36
NG_009081.1:g.72575C>G
NG_009081.2:g.94904C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1937C>G	ENSP00000443495.1:p.Ala646Gly
ENST00000461367.2:n.233C>G
ENST00000492634.7:n.1867C>G
ENST00000682015.1:c.1844C>G	ENSP00000506961.1:p.Ala615Gly
ENST00000682692.1:n.3032C>G
ENST00000682966.1:n.7578C>G
ENST00000683111.1:c.*1223C>G	ENSP00000507913.1:n.*1223C>G
ENST00000683322.1:n.3289C>G
ENST00000684050.1:n.4575C>G
ENST00000684286.1:n.3492C>G
ENST00000684502.1:n.3234C>G
ENST00000684763.1:n.552C>G
ENST00000366578.6:c.1937C>G MANE Select	ENSP00000355537.4:p.Ala646Gly
ENST00000492634.6:n.1867C>G
ENST00000542672.6:c.1937C>G	ENSP00000443495.1:p.Ala646Gly
ENST00000651091.1:c.1627C>G	ENSP00000498677.1:n.1627C>G
ENST00000651275.1:c.1829C>G	ENSP00000498926.1:p.Ala610Gly
ENST00000651781.1:c.1017C>G
ENST00000651786.1:c.*1309C>G	ENSP00000498364.1:n.*1309C>G
ENST00000652096.1:c.*1342C>G	ENSP00000498896.1:n.*1342C>G
ENST00000366578.5:c.1937C>G	ENSP00000355537.4:p.Ala646Gly
ENST00000461367.1:n.146C>G
ENST00000542672.5:c.1937C>G	ENSP00000443495.1:p.Ala646Gly
ENST00000546208.5:c.1313C>G	ENSP00000438384.2:p.Ala438Gly
NM_001103.3:c.1937C>G	NP_001094.1:p.Ala646Gly
NM_001278343.1:c.1937C>G	NP_001265272.1:p.Ala646Gly
NM_001278344.1:c.1313C>G	NP_001265273.1:p.Ala438Gly
NM_001278343.2:c.1937C>G	NP_001265272.1:p.Ala646Gly
NM_001103.4:c.1937C>G MANE Select	NP_001094.1:p.Ala646Gly
NM_001278344.2:c.1313C>G	NP_001265273.1:p.Ala438Gly