Canonical Allele Identifier: CA7962601

Gene: EARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23544597G>A , CM000678.2:g.23544597G>A	GRCh38
NC_000016.9:g.23555918G>A , CM000678.1:g.23555918G>A	GRCh37
NC_000016.8:g.23463419G>A	NCBI36
NG_027752.1:g.17779C>T
NG_027752.2:g.17779C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449606.7:c.402C>T MANE Select	ENSP00000395196.2:p.Thr134=
ENST00000674054.1:c.402C>T	ENSP00000501251.1:p.Thr134=
ENST00000449606.5:c.402C>T	ENSP00000395196.1:p.Thr134=
ENST00000561859.5:n.462C>T
ENST00000562581.5:c.*275C>T	ENSP00000455519.1:n.*275C>T
ENST00000563232.1:c.402C>T	ENSP00000456218.1:p.Thr134=
ENST00000563459.5:c.402C>T	ENSP00000456467.1:p.Thr134=
ENST00000564461.5:n.586C>T
ENST00000564501.5:c.402C>T	ENSP00000457107.1:p.Thr134=
ENST00000564668.5:c.*182C>T	ENSP00000455789.1:n.*182C>T
ENST00000564987.1:n.60-34C>T
ENST00000564997.1:c.*279C>T	ENSP00000455875.1:n.*279C>T
ENST00000566017.5:n.369C>T
NM_001083614.1:c.402C>T	NP_001077083.1:p.Thr134=
NM_001308211.1:c.402C>T	NP_001295140.1:p.Thr134=
NR_003501.1:n.434C>T
XM_011545738.1:c.330C>T	XP_011544040.1:p.Thr110=
XM_011545739.1:c.123C>T	XP_011544041.1:p.Thr41=
XR_001751841.1:n.724C>T
NM_001083614.2:c.402C>T MANE Select	NP_001077083.1:p.Thr134=
NR_003501.2:n.409C>T