Canonical Allele Identifier: CA39748307

Gene: ACTN2

Linked Data

• dbSNP Id: rs963795768
• MyVariant Identifiers: chr1:g.236925864G>T (hg19) ; chr1:g.236762564G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762564G>T , CM000663.2:g.236762564G>T	GRCh38
NC_000001.10:g.236925864G>T , CM000663.1:g.236925864G>T	GRCh37
NC_000001.9:g.234992487G>T	NCBI36
NG_009081.1:g.81095G>T
NG_009081.2:g.103424G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2630G>T	ENSP00000443495.1:p.Gly877Val
ENST00000461367.2:n.926G>T
ENST00000492634.7:n.2560G>T
ENST00000682015.1:c.2537G>T	ENSP00000506961.1:p.Gly846Val
ENST00000682490.1:n.548G>T
ENST00000682692.1:n.3725G>T
ENST00000682966.1:n.8271G>T
ENST00000683111.1:c.*1916G>T	ENSP00000507913.1:n.*1916G>T
ENST00000683322.1:n.3982G>T
ENST00000683805.1:n.1421G>T
ENST00000684050.1:n.5268G>T
ENST00000684122.1:n.2064G>T
ENST00000684286.1:n.4185G>T
ENST00000684502.1:n.3927G>T
ENST00000684763.1:n.1245G>T
ENST00000366578.6:c.2630G>T MANE Select	ENSP00000355537.4:p.Gly877Val
ENST00000492634.6:n.2560G>T
ENST00000542672.6:c.2630G>T	ENSP00000443495.1:p.Gly877Val
ENST00000651091.1:c.2320G>T	ENSP00000498677.1:n.2320G>T
ENST00000651275.1:c.2522G>T	ENSP00000498926.1:p.Gly841Val
ENST00000651781.1:c.1710G>T
ENST00000651786.1:c.*2002G>T	ENSP00000498364.1:n.*2002G>T
ENST00000652096.1:c.*2035G>T	ENSP00000498896.1:n.*2035G>T
ENST00000366578.5:c.2630G>T	ENSP00000355537.4:p.Gly877Val
ENST00000461367.1:n.839G>T
ENST00000542672.5:c.2630G>T	ENSP00000443495.1:p.Gly877Val
ENST00000546208.5:c.2006G>T	ENSP00000438384.2:p.Gly669Val
NM_001103.3:c.2630G>T	NP_001094.1:p.Gly877Val
NM_001278343.1:c.2630G>T	NP_001265272.1:p.Gly877Val
NM_001278344.1:c.2006G>T	NP_001265273.1:p.Gly669Val
NM_001278343.2:c.2630G>T	NP_001265272.1:p.Gly877Val
NM_001103.4:c.2630G>T MANE Select	NP_001094.1:p.Gly877Val
NM_001278344.2:c.2006G>T	NP_001265273.1:p.Gly669Val