Canonical Allele Identifier: CA2487053231

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762582C= , CM000663.2:g.236762582C=	GRCh38
NC_000001.10:g.236925882C= , CM000663.1:g.236925882C=	GRCh37
NC_000001.9:g.234992505C=	NCBI36
NG_009081.1:g.81113C=
NG_009081.2:g.103442C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2648C=	ENSP00000443495.1:p.Ala883=
ENST00000461367.2:n.944C=
ENST00000492634.7:n.2578C=
ENST00000682015.1:c.2555C=	ENSP00000506961.1:p.Ala852=
ENST00000682490.1:n.566C=
ENST00000682692.1:n.3743C=
ENST00000682966.1:n.8289C=
ENST00000683111.1:c.*1934C=	ENSP00000507913.1:n.*1934C=
ENST00000683322.1:n.4000C=
ENST00000683805.1:n.1439C=
ENST00000684050.1:n.5286C=
ENST00000684122.1:n.2082C=
ENST00000684286.1:n.4203C=
ENST00000684502.1:n.3945C=
ENST00000684763.1:n.1263C=
ENST00000366578.6:c.2648C= MANE Select	ENSP00000355537.4:p.Ala883=
ENST00000492634.6:n.2578C=
ENST00000542672.6:c.2648C=	ENSP00000443495.1:p.Ala883=
ENST00000651091.1:c.2338C=	ENSP00000498677.1:n.2338C=
ENST00000651275.1:c.2540C=	ENSP00000498926.1:p.Ala847=
ENST00000651781.1:c.1728C=
ENST00000651786.1:c.*2020C=	ENSP00000498364.1:n.*2020C=
ENST00000652096.1:c.*2053C=	ENSP00000498896.1:n.*2053C=
ENST00000366578.5:c.2648C=	ENSP00000355537.4:p.Ala883=
ENST00000542672.5:c.2648C=	ENSP00000443495.1:p.Ala883=
ENST00000546208.5:c.2024C=	ENSP00000438384.2:p.Ala675=
NM_001103.3:c.2648C=	NP_001094.1:p.Ala883=
NM_001278343.1:c.2648C=	NP_001265272.1:p.Ala883=
NM_001278344.1:c.2024C=	NP_001265273.1:p.Ala675=
NM_001278343.2:c.2648C=	NP_001265272.1:p.Ala883=
NM_001103.4:c.2648C= MANE Select	NP_001094.1:p.Ala883=
NM_001278344.2:c.2024C=	NP_001265273.1:p.Ala675=