Canonical Allele Identifier: CA423809589

Gene: ACTN2

Linked Data

• dbSNP Id: rs2102934681
• MyVariant Identifiers: chr1:g.236911060G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236747760G>A , CM000663.2:g.236747760G>A	GRCh38
NC_000001.10:g.236911060G>A , CM000663.1:g.236911060G>A	GRCh37
NC_000001.9:g.234977683G>A	NCBI36
NG_009081.1:g.66291G>A
NG_009081.2:g.88620G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1500G>A	ENSP00000443495.1:p.Arg500=
ENST00000492634.7:n.1430G>A
ENST00000682015.1:c.1407G>A	ENSP00000506961.1:p.Arg469=
ENST00000682692.1:n.1247G>A
ENST00000682966.1:n.7141G>A
ENST00000683111.1:c.*786G>A	ENSP00000507913.1:n.*786G>A
ENST00000683322.1:n.2852G>A
ENST00000684050.1:n.4138G>A
ENST00000684286.1:n.3055G>A
ENST00000684502.1:n.1449G>A
ENST00000366578.6:c.1500G>A MANE Select	ENSP00000355537.4:p.Arg500=
ENST00000492634.6:n.1430G>A
ENST00000542672.6:c.1500G>A	ENSP00000443495.1:p.Arg500=
ENST00000651091.1:c.1190G>A	ENSP00000498677.1:n.1190G>A
ENST00000651275.1:c.1392G>A	ENSP00000498926.1:p.Arg464=
ENST00000651781.1:c.580G>A
ENST00000651786.1:c.*872G>A	ENSP00000498364.1:n.*872G>A
ENST00000652096.1:c.*905G>A	ENSP00000498896.1:n.*905G>A
ENST00000366578.5:c.1500G>A	ENSP00000355537.4:p.Arg500=
ENST00000492101.1:n.61G>A
ENST00000542672.5:c.1500G>A	ENSP00000443495.1:p.Arg500=
ENST00000546208.5:c.876G>A	ENSP00000438384.2:p.Arg292=
NM_001103.3:c.1500G>A	NP_001094.1:p.Arg500=
NM_001278343.1:c.1500G>A	NP_001265272.1:p.Arg500=
NM_001278344.1:c.876G>A	NP_001265273.1:p.Arg292=
NM_001278343.2:c.1500G>A	NP_001265272.1:p.Arg500=
NM_001103.4:c.1500G>A MANE Select	NP_001094.1:p.Arg500=
NM_001278344.2:c.876G>A	NP_001265273.1:p.Arg292=