Canonical Allele Identifier: CA345373454

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236882198A>C (hg19) ; chr1:g.236718898A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236718898A>C , CM000663.2:g.236718898A>C	GRCh38
NC_000001.10:g.236882198A>C , CM000663.1:g.236882198A>C	GRCh37
NC_000001.9:g.234948821A>C	NCBI36
NG_009081.1:g.37429A>C
NG_009081.2:g.59758A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.246A>C	ENSP00000443495.1:p.Glu82Asp
ENST00000492634.7:n.341A>C
ENST00000682015.1:c.246A>C	ENSP00000506961.1:p.Glu82Asp
ENST00000682692.1:n.246A>C
ENST00000682966.1:n.245A>C
ENST00000683075.1:n.185A>C
ENST00000683111.1:c.189A>C	ENSP00000507913.1:p.Glu63Asp
ENST00000684050.1:n.281A>C
ENST00000684286.1:n.314A>C
ENST00000684502.1:n.281A>C
ENST00000366578.6:c.246A>C MANE Select	ENSP00000355537.4:p.Glu82Asp
ENST00000492634.6:n.341A>C
ENST00000542672.6:c.246A>C	ENSP00000443495.1:p.Glu82Asp
ENST00000651091.1:c.189A>C	ENSP00000498677.1:p.Glu63Asp
ENST00000651187.1:c.30A>C	ENSP00000498348.1:p.Glu10Asp
ENST00000651275.1:c.231A>C	ENSP00000498926.1:p.Glu77Asp
ENST00000651786.1:c.246A>C	ENSP00000498364.1:p.Glu82Asp
ENST00000652096.1:c.246A>C	ENSP00000498896.1:p.Glu82Asp
ENST00000366578.5:c.246A>C	ENSP00000355537.4:p.Glu82Asp
ENST00000492634.5:n.393A>C
ENST00000542672.5:c.246A>C	ENSP00000443495.1:p.Glu82Asp
ENST00000546208.5:c.-576A>C	ENSP00000438384.2:n.-576A>C
NM_001103.3:c.246A>C	NP_001094.1:p.Glu82Asp
NM_001278343.1:c.246A>C	NP_001265272.1:p.Glu82Asp
NM_001278344.1:c.-576A>C	NP_001265273.1:n.-576A>C
NM_001278343.2:c.246A>C	NP_001265272.1:p.Glu82Asp
NM_001103.4:c.246A>C MANE Select	NP_001094.1:p.Glu82Asp
NM_001278344.2:c.-576A>C	NP_001265273.1:n.-576A>C