Canonical Allele Identifier: CA7962675

Gene: EARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23552240C>T , CM000678.2:g.23552240C>T	GRCh38
NC_000016.9:g.23563561C>T , CM000678.1:g.23563561C>T	GRCh37
NC_000016.8:g.23471062C>T	NCBI36
NG_027752.1:g.10136G>A
NG_027752.2:g.10136G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449606.7:c.204G>A MANE Select	ENSP00000395196.2:p.Gln68=
ENST00000674054.1:c.204G>A	ENSP00000501251.1:p.Gln68=
ENST00000449606.5:c.204G>A	ENSP00000395196.1:p.Gln68=
ENST00000561859.5:n.211G>A
ENST00000562581.5:c.*77G>A	ENSP00000455519.1:n.*77G>A
ENST00000562799.1:n.526G>A
ENST00000563232.1:c.204G>A	ENSP00000456218.1:p.Gln68=
ENST00000563459.5:c.204G>A	ENSP00000456467.1:p.Gln68=
ENST00000563499.1:c.*157G>A	ENSP00000458604.1:n.*157G>A
ENST00000564461.5:n.388G>A
ENST00000564501.5:c.204G>A	ENSP00000457107.1:p.Gln68=
ENST00000564668.5:c.284G>A	ENSP00000455789.1:p.Arg95Lys
ENST00000564997.1:c.*81G>A	ENSP00000455875.1:n.*81G>A
NM_001083614.1:c.204G>A	NP_001077083.1:p.Gln68=
NM_001308211.1:c.204G>A	NP_001295140.1:p.Gln68=
NR_003501.1:n.236G>A
XM_011545738.1:c.132G>A	XP_011544040.1:p.Gln44=
XM_011545739.1:c.-76G>A	XP_011544041.1:n.-76G>A
XR_001751841.1:n.526G>A
NM_001083614.2:c.204G>A MANE Select	NP_001077083.1:p.Gln68=
NR_003501.2:n.211G>A