Canonical Allele Identifier: CA395138679

Gene: EARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23544671C>A , CM000678.2:g.23544671C>A	GRCh38
NC_000016.9:g.23555992C>A , CM000678.1:g.23555992C>A	GRCh37
NC_000016.8:g.23463493C>A	NCBI36
NG_027752.1:g.17705G>T
NG_027752.2:g.17705G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001083614.2:c.328G>T MANE Select	NP_001077083.1:p.Gly110Cys
ENST00000449606.7:c.328G>T MANE Select	ENSP00000395196.2:p.Gly110Cys
NM_001083614.1:c.328G>T	NP_001077083.1:p.Gly110Cys
NM_001308211.1:c.328G>T	NP_001295140.1:p.Gly110Cys
NR_003501.1:n.360G>T
NR_003501.2:n.335G>T
ENST00000449606.5:c.328G>T	ENSP00000395196.1:p.Gly110Cys
ENST00000561859.5:n.388G>T
ENST00000562581.5:c.*201G>T	ENSP00000455519.1:n.*201G>T
ENST00000563232.1:c.328G>T	ENSP00000456218.1:p.Gly110Cys
ENST00000563459.5:c.328G>T	ENSP00000456467.1:p.Gly110Cys
ENST00000564461.5:n.512G>T
ENST00000564501.5:c.328G>T	ENSP00000457107.1:p.Gly110Cys
ENST00000564668.5:c.*108G>T	ENSP00000455789.1:n.*108G>T
ENST00000564987.1:n.60-108G>T
ENST00000564997.1:c.*205G>T	ENSP00000455875.1:n.*205G>T
ENST00000566017.5:n.295G>T
ENST00000674054.1:c.328G>T	ENSP00000501251.1:p.Gly110Cys
XM_011545738.1:c.256G>T	XP_011544040.1:p.Gly86Cys
XM_011545739.1:c.49G>T	XP_011544041.1:p.Gly17Cys
XR_001751841.1:n.650G>T