Canonical Allele Identifier: CA1143358487

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755173A= , CM000663.2:g.236755173A=	GRCh38
NC_000001.10:g.236918473A= , CM000663.1:g.236918473A=	GRCh37
NC_000001.9:g.234985096A=	NCBI36
NG_009081.1:g.73704A=
NG_009081.2:g.96033A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2129A=	ENSP00000443495.1:p.Asn710=
ENST00000461367.2:n.425A=
ENST00000492634.7:n.2059A=
ENST00000682015.1:c.2036A=	ENSP00000506961.1:p.Asn679=
ENST00000682692.1:n.3224A=
ENST00000682966.1:n.7770A=
ENST00000683111.1:c.*1415A=	ENSP00000507913.1:n.*1415A=
ENST00000683322.1:n.3481A=
ENST00000683805.1:n.920A=
ENST00000684050.1:n.4767A=
ENST00000684122.1:n.276A=
ENST00000684286.1:n.3684A=
ENST00000684502.1:n.3426A=
ENST00000684763.1:n.744A=
ENST00000366578.6:c.2129A= MANE Select	ENSP00000355537.4:p.Asn710=
ENST00000492634.6:n.2059A=
ENST00000542672.6:c.2129A=	ENSP00000443495.1:p.Asn710=
ENST00000651091.1:c.1819A=	ENSP00000498677.1:n.1819A=
ENST00000651275.1:c.2021A=	ENSP00000498926.1:p.Asn674=
ENST00000651781.1:c.1209A=
ENST00000651786.1:c.*1501A=	ENSP00000498364.1:n.*1501A=
ENST00000652096.1:c.*1534A=	ENSP00000498896.1:n.*1534A=
ENST00000366578.5:c.2129A=	ENSP00000355537.4:p.Asn710=
ENST00000461367.1:n.338A=
ENST00000542672.5:c.2129A=	ENSP00000443495.1:p.Asn710=
ENST00000546208.5:c.1505A=	ENSP00000438384.2:p.Asn502=
NM_001103.3:c.2129A=	NP_001094.1:p.Asn710=
NM_001278343.1:c.2129A=	NP_001265272.1:p.Asn710=
NM_001278344.1:c.1505A=	NP_001265273.1:p.Asn502=
NM_001278343.2:c.2129A=	NP_001265272.1:p.Asn710=
NM_001103.4:c.2129A= MANE Select	NP_001094.1:p.Asn710=
NM_001278344.2:c.1505A=	NP_001265273.1:p.Asn502=