Canonical Allele Identifier: CA39748222

Gene: ACTN2

Linked Data

• dbSNP Id: rs867675863
• MyVariant Identifiers: chr1:g.236925819G>A (hg19) ; chr1:g.236762519G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762519G>A , CM000663.2:g.236762519G>A	GRCh38
NC_000001.10:g.236925819G>A , CM000663.1:g.236925819G>A	GRCh37
NC_000001.9:g.234992442G>A	NCBI36
NG_009081.1:g.81050G>A
NG_009081.2:g.103379G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000542672.7:c.2585G>A	ENSP00000443495.1:p.Cys862Tyr
ENST00000461367.2:n.881G>A
ENST00000492634.7:n.2515G>A
ENST00000682015.1:c.2492G>A	ENSP00000506961.1:p.Cys831Tyr
ENST00000682490.1:n.503G>A
ENST00000682692.1:n.3680G>A
ENST00000682966.1:n.8226G>A
ENST00000683111.1:c.*1871G>A	ENSP00000507913.1:n.*1871G>A
ENST00000683322.1:n.3937G>A
ENST00000683805.1:n.1376G>A
ENST00000684050.1:n.5223G>A
ENST00000684122.1:n.2019G>A
ENST00000684286.1:n.4140G>A
ENST00000684502.1:n.3882G>A
ENST00000684763.1:n.1200G>A
ENST00000366578.6:c.2585G>A MANE Select	ENSP00000355537.4:p.Cys862Tyr
ENST00000492634.6:n.2515G>A
ENST00000542672.6:c.2585G>A	ENSP00000443495.1:p.Cys862Tyr
ENST00000651091.1:c.2275G>A	ENSP00000498677.1:n.2275G>A
ENST00000651275.1:c.2477G>A	ENSP00000498926.1:p.Cys826Tyr
ENST00000651781.1:c.1665G>A
ENST00000651786.1:c.*1957G>A	ENSP00000498364.1:n.*1957G>A
ENST00000652096.1:c.*1990G>A	ENSP00000498896.1:n.*1990G>A
ENST00000366578.5:c.2585G>A	ENSP00000355537.4:p.Cys862Tyr
ENST00000461367.1:n.794G>A
ENST00000542672.5:c.2585G>A	ENSP00000443495.1:p.Cys862Tyr
ENST00000546208.5:c.1961G>A	ENSP00000438384.2:p.Cys654Tyr
NM_001103.3:c.2585G>A	NP_001094.1:p.Cys862Tyr
NM_001278343.1:c.2585G>A	NP_001265272.1:p.Cys862Tyr
NM_001278344.1:c.1961G>A	NP_001265273.1:p.Cys654Tyr
NM_001278343.2:c.2585G>A	NP_001265272.1:p.Cys862Tyr
NM_001103.4:c.2585G>A MANE Select	NP_001094.1:p.Cys862Tyr
NM_001278344.2:c.1961G>A	NP_001265273.1:p.Cys654Tyr