Canonical Allele Identifier: CA345373701

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236882312A>C (hg19) ; chr1:g.236719012A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236719012A>C , CM000663.2:g.236719012A>C	GRCh38
NC_000001.10:g.236882312A>C , CM000663.1:g.236882312A>C	GRCh37
NC_000001.9:g.234948935A>C	NCBI36
NG_009081.1:g.37543A>C
NG_009081.2:g.59872A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.360A>C	ENSP00000443495.1:p.Glu120Asp
ENST00000492634.7:n.455A>C
ENST00000494762.2:n.109A>C
ENST00000682015.1:c.360A>C	ENSP00000506961.1:p.Glu120Asp
ENST00000682692.1:n.360A>C
ENST00000682966.1:n.359A>C
ENST00000683075.1:n.299A>C
ENST00000683111.1:c.303A>C	ENSP00000507913.1:p.Glu101Asp
ENST00000684050.1:n.395A>C
ENST00000684286.1:n.428A>C
ENST00000684502.1:n.395A>C
ENST00000366578.6:c.360A>C MANE Select	ENSP00000355537.4:p.Glu120Asp
ENST00000492634.6:n.455A>C
ENST00000542672.6:c.360A>C	ENSP00000443495.1:p.Glu120Asp
ENST00000651091.1:c.303A>C	ENSP00000498677.1:p.Glu101Asp
ENST00000651187.1:c.144A>C	ENSP00000498348.1:p.Glu48Asp
ENST00000651275.1:c.345A>C	ENSP00000498926.1:p.Glu115Asp
ENST00000651786.1:c.360A>C	ENSP00000498364.1:p.Glu120Asp
ENST00000652096.1:c.360A>C	ENSP00000498896.1:p.Glu120Asp
ENST00000366578.5:c.360A>C	ENSP00000355537.4:p.Glu120Asp
ENST00000492634.5:n.507A>C
ENST00000542672.5:c.360A>C	ENSP00000443495.1:p.Glu120Asp
ENST00000546208.5:c.-462A>C	ENSP00000438384.2:n.-462A>C
NM_001103.3:c.360A>C	NP_001094.1:p.Glu120Asp
NM_001278343.1:c.360A>C	NP_001265272.1:p.Glu120Asp
NM_001278344.1:c.-462A>C	NP_001265273.1:n.-462A>C
NM_001278343.2:c.360A>C	NP_001265272.1:p.Glu120Asp
NM_001103.4:c.360A>C MANE Select	NP_001094.1:p.Glu120Asp
NM_001278344.2:c.-462A>C	NP_001265273.1:n.-462A>C