Canonical Allele Identifier: CA7962617

Gene: EARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23544665C>G , CM000678.2:g.23544665C>G	GRCh38
NC_000016.9:g.23555986C>G , CM000678.1:g.23555986C>G	GRCh37
NC_000016.8:g.23463487C>G	NCBI36
NG_027752.1:g.17711G>C
NG_027752.2:g.17711G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449606.7:c.334G>C MANE Select	ENSP00000395196.2:p.Ala112Pro
ENST00000674054.1:c.334G>C	ENSP00000501251.1:p.Ala112Pro
ENST00000449606.5:c.334G>C	ENSP00000395196.1:p.Ala112Pro
ENST00000561859.5:n.394G>C
ENST00000562581.5:c.*207G>C	ENSP00000455519.1:n.*207G>C
ENST00000563232.1:c.334G>C	ENSP00000456218.1:p.Ala112Pro
ENST00000563459.5:c.334G>C	ENSP00000456467.1:p.Ala112Pro
ENST00000564461.5:n.518G>C
ENST00000564501.5:c.334G>C	ENSP00000457107.1:p.Ala112Pro
ENST00000564668.5:c.*114G>C	ENSP00000455789.1:n.*114G>C
ENST00000564987.1:n.60-102G>C
ENST00000564997.1:c.*211G>C	ENSP00000455875.1:n.*211G>C
ENST00000566017.5:n.301G>C
NM_001083614.1:c.334G>C	NP_001077083.1:p.Ala112Pro
NM_001308211.1:c.334G>C	NP_001295140.1:p.Ala112Pro
NR_003501.1:n.366G>C
XM_011545738.1:c.262G>C	XP_011544040.1:p.Ala88Pro
XM_011545739.1:c.55G>C	XP_011544041.1:p.Ala19Pro
XR_001751841.1:n.656G>C
NM_001083614.2:c.334G>C MANE Select	NP_001077083.1:p.Ala112Pro
NR_003501.2:n.341G>C