Canonical Allele Identifier: CA395140505

Gene: EARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23552151G>A , CM000678.2:g.23552151G>A	GRCh38
NC_000016.9:g.23563472G>A , CM000678.1:g.23563472G>A	GRCh37
NC_000016.8:g.23470973G>A	NCBI36
NG_027752.1:g.10225C>T
NG_027752.2:g.10225C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449606.7:c.293C>T MANE Select	ENSP00000395196.2:p.Ala98Val
ENST00000674054.1:c.293C>T	ENSP00000501251.1:p.Ala98Val
ENST00000449606.5:c.293C>T	ENSP00000395196.1:p.Ala98Val
ENST00000561859.5:n.300C>T
ENST00000562581.5:c.*166C>T	ENSP00000455519.1:n.*166C>T
ENST00000563232.1:c.293C>T	ENSP00000456218.1:p.Ala98Val
ENST00000563459.5:c.293C>T	ENSP00000456467.1:p.Ala98Val
ENST00000564461.5:n.477C>T
ENST00000564501.5:c.293C>T	ENSP00000457107.1:p.Ala98Val
ENST00000564668.5:c.*73C>T	ENSP00000455789.1:n.*73C>T
ENST00000564997.1:c.*170C>T	ENSP00000455875.1:n.*170C>T
NM_001083614.1:c.293C>T	NP_001077083.1:p.Ala98Val
NM_001308211.1:c.293C>T	NP_001295140.1:p.Ala98Val
NR_003501.1:n.325C>T
XM_011545738.1:c.221C>T	XP_011544040.1:p.Ala74Val
XM_011545739.1:c.14C>T	XP_011544041.1:p.Ala5Val
XR_001751841.1:n.615C>T
NM_001083614.2:c.293C>T MANE Select	NP_001077083.1:p.Ala98Val
NR_003501.2:n.300C>T