Canonical Allele Identifier: CA345387076

Gene: ACTN2

Linked Data

• dbSNP Id: rs1400420274
• gnomAD v2: 1-236917366-C-G
• MyVariant Identifiers: chr1:g.236917366C>G (hg19) ; chr1:g.236754066C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236754066C>G , CM000663.2:g.236754066C>G	GRCh38
NC_000001.10:g.236917366C>G , CM000663.1:g.236917366C>G	GRCh37
NC_000001.9:g.234983989C>G	NCBI36
NG_009081.1:g.72597C>G
NG_009081.2:g.94926C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1959C>G	ENSP00000443495.1:p.Ile653Met
ENST00000461367.2:n.255C>G
ENST00000492634.7:n.1889C>G
ENST00000682015.1:c.1866C>G	ENSP00000506961.1:p.Ile622Met
ENST00000682692.1:n.3054C>G
ENST00000682966.1:n.7600C>G
ENST00000683111.1:c.*1245C>G	ENSP00000507913.1:n.*1245C>G
ENST00000683322.1:n.3311C>G
ENST00000684050.1:n.4597C>G
ENST00000684286.1:n.3514C>G
ENST00000684502.1:n.3256C>G
ENST00000684763.1:n.574C>G
ENST00000366578.6:c.1959C>G MANE Select	ENSP00000355537.4:p.Ile653Met
ENST00000492634.6:n.1889C>G
ENST00000542672.6:c.1959C>G	ENSP00000443495.1:p.Ile653Met
ENST00000651091.1:c.1649C>G	ENSP00000498677.1:n.1649C>G
ENST00000651275.1:c.1851C>G	ENSP00000498926.1:p.Ile617Met
ENST00000651781.1:c.1039C>G
ENST00000651786.1:c.*1331C>G	ENSP00000498364.1:n.*1331C>G
ENST00000652096.1:c.*1364C>G	ENSP00000498896.1:n.*1364C>G
ENST00000366578.5:c.1959C>G	ENSP00000355537.4:p.Ile653Met
ENST00000461367.1:n.168C>G
ENST00000542672.5:c.1959C>G	ENSP00000443495.1:p.Ile653Met
ENST00000546208.5:c.1335C>G	ENSP00000438384.2:p.Ile445Met
NM_001103.3:c.1959C>G	NP_001094.1:p.Ile653Met
NM_001278343.1:c.1959C>G	NP_001265272.1:p.Ile653Met
NM_001278344.1:c.1335C>G	NP_001265273.1:p.Ile445Met
NM_001278343.2:c.1959C>G	NP_001265272.1:p.Ile653Met
NM_001103.4:c.1959C>G MANE Select	NP_001094.1:p.Ile653Met
NM_001278344.2:c.1335C>G	NP_001265273.1:p.Ile445Met