Canonical Allele Identifier: CA290700

Gene: EARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23525320T>G , CM000678.2:g.23525320T>G	GRCh38
NC_000016.9:g.23536641T>G , CM000678.1:g.23536641T>G	GRCh37
NC_000016.8:g.23444142T>G	NCBI36
NG_027752.1:g.37056A>C
NG_027752.2:g.37056A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449606.7:c.1412A>C MANE Select	ENSP00000395196.2:p.Lys471Thr
ENST00000674054.1:c.1412A>C	ENSP00000501251.1:p.Lys471Thr
ENST00000449606.5:c.1412A>C	ENSP00000395196.1:p.Lys471Thr
ENST00000563232.1:c.1412A>C	ENSP00000456218.1:p.Lys471Thr
ENST00000563459.5:c.1412A>C	ENSP00000456467.1:p.Lys471Thr
ENST00000564501.5:c.1412A>C	ENSP00000457107.1:p.Lys471Thr
ENST00000564987.1:n.1056A>C
NM_001083614.1:c.1412A>C	NP_001077083.1:p.Lys471Thr
NM_001308211.1:c.1412A>C	NP_001295140.1:p.Lys471Thr
NR_003501.1:n.1444A>C
XM_011545738.1:c.1340A>C	XP_011544040.1:p.Lys447Thr
XM_011545739.1:c.1133A>C	XP_011544041.1:p.Lys378Thr
XR_001751841.1:n.1734A>C
NM_001083614.2:c.1412A>C MANE Select	NP_001077083.1:p.Lys471Thr
NR_003501.2:n.1419A>C