Canonical Allele Identifier: CA1143785505

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762590T= , CM000663.2:g.236762590T=	GRCh38
NC_000001.10:g.236925890T= , CM000663.1:g.236925890T=	GRCh37
NC_000001.9:g.234992513T=	NCBI36
NG_009081.1:g.81121T=
NG_009081.2:g.103450T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2656T=	ENSP00000443495.1:p.Ser886=
ENST00000461367.2:n.952T=
ENST00000492634.7:n.2586T=
ENST00000682015.1:c.2563T=	ENSP00000506961.1:p.Ser855=
ENST00000682490.1:n.574T=
ENST00000682692.1:n.3751T=
ENST00000682966.1:n.8297T=
ENST00000683111.1:c.*1942T=	ENSP00000507913.1:n.*1942T=
ENST00000683322.1:n.4008T=
ENST00000683805.1:n.1447T=
ENST00000684050.1:n.5294T=
ENST00000684122.1:n.2090T=
ENST00000684286.1:n.4211T=
ENST00000684502.1:n.3953T=
ENST00000684763.1:n.1271T=
ENST00000366578.6:c.2656T= MANE Select	ENSP00000355537.4:p.Ser886=
ENST00000492634.6:n.2586T=
ENST00000542672.6:c.2656T=	ENSP00000443495.1:p.Ser886=
ENST00000651091.1:c.2346T=	ENSP00000498677.1:n.2346T=
ENST00000651275.1:c.2548T=	ENSP00000498926.1:p.Ser850=
ENST00000651781.1:c.1736T=
ENST00000651786.1:c.*2028T=	ENSP00000498364.1:n.*2028T=
ENST00000652096.1:c.*2061T=	ENSP00000498896.1:n.*2061T=
ENST00000366578.5:c.2656T=	ENSP00000355537.4:p.Ser886=
ENST00000542672.5:c.2656T=	ENSP00000443495.1:p.Ser886=
ENST00000546208.5:c.2032T=	ENSP00000438384.2:p.Ser678=
NM_001103.3:c.2656T=	NP_001094.1:p.Ser886=
NM_001278343.1:c.2656T=	NP_001265272.1:p.Ser886=
NM_001278344.1:c.2032T=	NP_001265273.1:p.Ser678=
NM_001278343.2:c.2656T=	NP_001265272.1:p.Ser886=
NM_001103.4:c.2656T= MANE Select	NP_001094.1:p.Ser886=
NM_001278344.2:c.2032T=	NP_001265273.1:p.Ser678=