Canonical Allele Identifier: CA345384073

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236911032A>C (hg19) ; chr1:g.236747732A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236747732A>C , CM000663.2:g.236747732A>C	GRCh38
NC_000001.10:g.236911032A>C , CM000663.1:g.236911032A>C	GRCh37
NC_000001.9:g.234977655A>C	NCBI36
NG_009081.1:g.66263A>C
NG_009081.2:g.88592A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1472A>C	ENSP00000443495.1:p.Asp491Ala
ENST00000492634.7:n.1402A>C
ENST00000682015.1:c.1379A>C	ENSP00000506961.1:p.Asp460Ala
ENST00000682692.1:n.1219A>C
ENST00000682966.1:n.7113A>C
ENST00000683111.1:c.*758A>C	ENSP00000507913.1:n.*758A>C
ENST00000683322.1:n.2824A>C
ENST00000684050.1:n.4110A>C
ENST00000684286.1:n.3027A>C
ENST00000684502.1:n.1421A>C
ENST00000366578.6:c.1472A>C MANE Select	ENSP00000355537.4:p.Asp491Ala
ENST00000492634.6:n.1402A>C
ENST00000542672.6:c.1472A>C	ENSP00000443495.1:p.Asp491Ala
ENST00000651091.1:c.1162A>C	ENSP00000498677.1:n.1162A>C
ENST00000651275.1:c.1364A>C	ENSP00000498926.1:p.Asp455Ala
ENST00000651781.1:c.552A>C
ENST00000651786.1:c.*844A>C	ENSP00000498364.1:n.*844A>C
ENST00000652096.1:c.*877A>C	ENSP00000498896.1:n.*877A>C
ENST00000366578.5:c.1472A>C	ENSP00000355537.4:p.Asp491Ala
ENST00000492101.1:n.33A>C
ENST00000542672.5:c.1472A>C	ENSP00000443495.1:p.Asp491Ala
ENST00000546208.5:c.848A>C	ENSP00000438384.2:p.Asp283Ala
NM_001103.3:c.1472A>C	NP_001094.1:p.Asp491Ala
NM_001278343.1:c.1472A>C	NP_001265272.1:p.Asp491Ala
NM_001278344.1:c.848A>C	NP_001265273.1:p.Asp283Ala
NM_001278343.2:c.1472A>C	NP_001265272.1:p.Asp491Ala
NM_001103.4:c.1472A>C MANE Select	NP_001094.1:p.Asp491Ala
NM_001278344.2:c.848A>C	NP_001265273.1:p.Asp283Ala