Canonical Allele Identifier: CA2487053288

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762721A= , CM000663.2:g.236762721A=	GRCh38
NC_000001.10:g.236926021A= , CM000663.1:g.236926021A=	GRCh37
NC_000001.9:g.234992644A=	NCBI36
NG_009081.1:g.81252A=
NG_009081.2:g.103581A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.*102A=	ENSP00000443495.1:n.*102A=
ENST00000461367.2:n.1083A=
ENST00000492634.7:n.2717A=
ENST00000682015.1:c.*102A=	ENSP00000506961.1:n.*102A=
ENST00000682490.1:n.705A=
ENST00000682692.1:n.3882A=
ENST00000682966.1:n.8428A=
ENST00000683111.1:c.*2073A=	ENSP00000507913.1:n.*2073A=
ENST00000683322.1:n.4139A=
ENST00000683805.1:n.1578A=
ENST00000684050.1:n.5425A=
ENST00000684122.1:n.2221A=
ENST00000684286.1:n.4342A=
ENST00000684502.1:n.4084A=
ENST00000684763.1:n.1402A=
ENST00000366578.6:c.*102A= MANE Select	ENSP00000355537.4:n.*102A=
ENST00000492634.6:n.2717A=
ENST00000542672.6:c.*102A=	ENSP00000443495.1:n.*102A=
ENST00000651275.1:c.2679A=	ENSP00000498926.1:n.2679A=
ENST00000651781.1:c.1867A=
ENST00000652096.1:c.*2192A=	ENSP00000498896.1:n.*2192A=
ENST00000366578.5:c.*102A=	ENSP00000355537.4:n.*102A=
ENST00000542672.5:c.*102A=	ENSP00000443495.1:n.*102A=
ENST00000546208.5:c.*102A=	ENSP00000438384.2:n.*102A=
NM_001103.3:c.*102A=	NP_001094.1:n.*102A=
NM_001278343.1:c.*102A=	NP_001265272.1:n.*102A=
NM_001278344.1:c.*102A=	NP_001265273.1:n.*102A=
NM_001278343.2:c.*102A=	NP_001265272.1:n.*102A=
NM_001103.4:c.*102A= MANE Select	NP_001094.1:n.*102A=
NM_001278344.2:c.*102A=	NP_001265273.1:n.*102A=