Canonical Allele Identifier: CA423811105

Gene: ACTN2

Linked Data

• dbSNP Id: rs1572153309
• MyVariant Identifiers: chr1:g.236925784G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762484G>T , CM000663.2:g.236762484G>T	GRCh38
NC_000001.10:g.236925784G>T , CM000663.1:g.236925784G>T	GRCh37
NC_000001.9:g.234992407G>T	NCBI36
NG_009081.1:g.81015G>T
NG_009081.2:g.103344G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2550G>T	ENSP00000443495.1:p.Leu850=
ENST00000461367.2:n.846G>T
ENST00000492634.7:n.2480G>T
ENST00000682015.1:c.2457G>T	ENSP00000506961.1:p.Leu819=
ENST00000682490.1:n.468G>T
ENST00000682692.1:n.3645G>T
ENST00000682966.1:n.8191G>T
ENST00000683111.1:c.*1836G>T	ENSP00000507913.1:n.*1836G>T
ENST00000683322.1:n.3902G>T
ENST00000683805.1:n.1341G>T
ENST00000684050.1:n.5188G>T
ENST00000684122.1:n.1984G>T
ENST00000684286.1:n.4105G>T
ENST00000684502.1:n.3847G>T
ENST00000684763.1:n.1165G>T
ENST00000366578.6:c.2550G>T MANE Select	ENSP00000355537.4:p.Leu850=
ENST00000492634.6:n.2480G>T
ENST00000542672.6:c.2550G>T	ENSP00000443495.1:p.Leu850=
ENST00000651091.1:c.2240G>T	ENSP00000498677.1:n.2240G>T
ENST00000651275.1:c.2442G>T	ENSP00000498926.1:p.Leu814=
ENST00000651781.1:c.1630G>T
ENST00000651786.1:c.*1922G>T	ENSP00000498364.1:n.*1922G>T
ENST00000652096.1:c.*1955G>T	ENSP00000498896.1:n.*1955G>T
ENST00000366578.5:c.2550G>T	ENSP00000355537.4:p.Leu850=
ENST00000461367.1:n.759G>T
ENST00000542672.5:c.2550G>T	ENSP00000443495.1:p.Leu850=
ENST00000546208.5:c.1926G>T	ENSP00000438384.2:p.Leu642=
NM_001103.3:c.2550G>T	NP_001094.1:p.Leu850=
NM_001278343.1:c.2550G>T	NP_001265272.1:p.Leu850=
NM_001278344.1:c.1926G>T	NP_001265273.1:p.Leu642=
NM_001278343.2:c.2550G>T	NP_001265272.1:p.Leu850=
NM_001103.4:c.2550G>T MANE Select	NP_001094.1:p.Leu850=
NM_001278344.2:c.1926G>T	NP_001265273.1:p.Leu642=