Canonical Allele Identifier: CA2487035741

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236718998T= , CM000663.2:g.236718998T=	GRCh38
NC_000001.10:g.236882298T= , CM000663.1:g.236882298T=	GRCh37
NC_000001.9:g.234948921T=	NCBI36
NG_009081.1:g.37529T=
NG_009081.2:g.59858T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.346T=	ENSP00000443495.1:p.Ser116=
ENST00000492634.7:n.441T=
ENST00000494762.2:n.95T=
ENST00000682015.1:c.346T=	ENSP00000506961.1:p.Ser116=
ENST00000682692.1:n.346T=
ENST00000682966.1:n.345T=
ENST00000683075.1:n.285T=
ENST00000683111.1:c.289T=	ENSP00000507913.1:p.Ser97=
ENST00000684050.1:n.381T=
ENST00000684286.1:n.414T=
ENST00000684502.1:n.381T=
ENST00000366578.6:c.346T= MANE Select	ENSP00000355537.4:p.Ser116=
ENST00000492634.6:n.441T=
ENST00000542672.6:c.346T=	ENSP00000443495.1:p.Ser116=
ENST00000651091.1:c.289T=	ENSP00000498677.1:p.Ser97=
ENST00000651187.1:c.130T=	ENSP00000498348.1:p.Ser44=
ENST00000651275.1:c.331T=	ENSP00000498926.1:p.Ser111=
ENST00000651786.1:c.346T=	ENSP00000498364.1:p.Ser116=
ENST00000652096.1:c.346T=	ENSP00000498896.1:p.Ser116=
ENST00000366578.5:c.346T=	ENSP00000355537.4:p.Ser116=
ENST00000492634.5:n.493T=
ENST00000542672.5:c.346T=	ENSP00000443495.1:p.Ser116=
ENST00000546208.5:c.-476T=	ENSP00000438384.2:n.-476T=
NM_001103.3:c.346T=	NP_001094.1:p.Ser116=
NM_001278343.1:c.346T=	NP_001265272.1:p.Ser116=
NM_001278344.1:c.-476T=	NP_001265273.1:n.-476T=
NM_001278343.2:c.346T=	NP_001265272.1:p.Ser116=
NM_001103.4:c.346T= MANE Select	NP_001094.1:p.Ser116=
NM_001278344.2:c.-476T=	NP_001265273.1:n.-476T=