Canonical Allele Identifier: CA2213393379

Gene: EARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23535152A= , CM000678.2:g.23535152A=	GRCh38
NC_000016.9:g.23546473A= , CM000678.1:g.23546473A=	GRCh37
NC_000016.8:g.23453974A=	NCBI36
NG_027752.1:g.27224T=
NG_027752.2:g.27224T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000449606.7:c.694T= MANE Select	ENSP00000395196.2:p.Cys232=
ENST00000674054.1:c.694T=	ENSP00000501251.1:p.Cys232=
ENST00000449606.5:c.694T=	ENSP00000395196.1:p.Cys232=
ENST00000562402.1:n.298T=
ENST00000563232.1:c.694T=	ENSP00000456218.1:p.Cys232=
ENST00000563459.5:c.694T=	ENSP00000456467.1:p.Cys232=
ENST00000564501.5:c.694T=	ENSP00000457107.1:p.Cys232=
ENST00000564987.1:n.318T=
ENST00000565344.1:n.67T=
NM_001083614.1:c.694T=	NP_001077083.1:p.Cys232=
NM_001308211.1:c.694T=	NP_001295140.1:p.Cys232=
NR_003501.1:n.726T=
XM_011545738.1:c.622T=	XP_011544040.1:p.Cys208=
XM_011545739.1:c.415T=	XP_011544041.1:p.Cys139=
XR_001751841.1:n.1016T=
NM_001083614.2:c.694T= MANE Select	NP_001077083.1:p.Cys232=
NR_003501.2:n.701T=