Canonical Allele Identifier: CA7962487

Gene: EARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23534972C>T , CM000678.2:g.23534972C>T	GRCh38
NC_000016.9:g.23546293C>T , CM000678.1:g.23546293C>T	GRCh37
NC_000016.8:g.23453794C>T	NCBI36
NG_027752.1:g.27404G>A
NG_027752.2:g.27404G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449606.7:c.874G>A MANE Select	ENSP00000395196.2:p.Val292Ile
ENST00000674054.1:c.874G>A	ENSP00000501251.1:p.Val292Ile
ENST00000449606.5:c.874G>A	ENSP00000395196.1:p.Val292Ile
ENST00000562402.1:n.478G>A
ENST00000563232.1:c.874G>A	ENSP00000456218.1:p.Val292Ile
ENST00000563459.5:c.874G>A	ENSP00000456467.1:p.Val292Ile
ENST00000564501.5:c.874G>A	ENSP00000457107.1:p.Val292Ile
ENST00000564987.1:n.498G>A
ENST00000565344.1:n.247G>A
NM_001083614.1:c.874G>A	NP_001077083.1:p.Val292Ile
NM_001308211.1:c.874G>A	NP_001295140.1:p.Val292Ile
NR_003501.1:n.906G>A
XM_011545738.1:c.802G>A	XP_011544040.1:p.Val268Ile
XM_011545739.1:c.595G>A	XP_011544041.1:p.Val199Ile
XR_001751841.1:n.1196G>A
NM_001083614.2:c.874G>A MANE Select	NP_001077083.1:p.Val292Ile
NR_003501.2:n.881G>A