Canonical Allele Identifier: CA395134045

Gene: EARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23535167T>C , CM000678.2:g.23535167T>C	GRCh38
NC_000016.9:g.23546488T>C , CM000678.1:g.23546488T>C	GRCh37
NC_000016.8:g.23453989T>C	NCBI36
NG_027752.1:g.27209A>G
NG_027752.2:g.27209A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449606.7:c.679A>G MANE Select	ENSP00000395196.2:p.Thr227Ala
ENST00000674054.1:c.679A>G	ENSP00000501251.1:p.Thr227Ala
ENST00000449606.5:c.679A>G	ENSP00000395196.1:p.Thr227Ala
ENST00000562402.1:n.283A>G
ENST00000563232.1:c.679A>G	ENSP00000456218.1:p.Thr227Ala
ENST00000563459.5:c.679A>G	ENSP00000456467.1:p.Thr227Ala
ENST00000564501.5:c.679A>G	ENSP00000457107.1:p.Thr227Ala
ENST00000564987.1:n.303A>G
ENST00000565344.1:n.52A>G
NM_001083614.1:c.679A>G	NP_001077083.1:p.Thr227Ala
NM_001308211.1:c.679A>G	NP_001295140.1:p.Thr227Ala
NR_003501.1:n.711A>G
XM_011545738.1:c.607A>G	XP_011544040.1:p.Thr203Ala
XM_011545739.1:c.400A>G	XP_011544041.1:p.Thr134Ala
XR_001751841.1:n.1001A>G
NM_001083614.2:c.679A>G MANE Select	NP_001077083.1:p.Thr227Ala
NR_003501.2:n.686A>G