Canonical Allele Identifier: CA7962502

Gene: EARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23535033G>A , CM000678.2:g.23535033G>A	GRCh38
NC_000016.9:g.23546354G>A , CM000678.1:g.23546354G>A	GRCh37
NC_000016.8:g.23453855G>A	NCBI36
NG_027752.1:g.27343C>T
NG_027752.2:g.27343C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449606.7:c.813C>T MANE Select	ENSP00000395196.2:p.Phe271=
ENST00000674054.1:c.813C>T	ENSP00000501251.1:p.Phe271=
ENST00000449606.5:c.813C>T	ENSP00000395196.1:p.Phe271=
ENST00000562402.1:n.417C>T
ENST00000563232.1:c.813C>T	ENSP00000456218.1:p.Phe271=
ENST00000563459.5:c.813C>T	ENSP00000456467.1:p.Phe271=
ENST00000564501.5:c.813C>T	ENSP00000457107.1:p.Phe271=
ENST00000564987.1:n.437C>T
ENST00000565344.1:n.186C>T
NM_001083614.1:c.813C>T	NP_001077083.1:p.Phe271=
NM_001308211.1:c.813C>T	NP_001295140.1:p.Phe271=
NR_003501.1:n.845C>T
XM_011545738.1:c.741C>T	XP_011544040.1:p.Phe247=
XM_011545739.1:c.534C>T	XP_011544041.1:p.Phe178=
XR_001751841.1:n.1135C>T
NM_001083614.2:c.813C>T MANE Select	NP_001077083.1:p.Phe271=
NR_003501.2:n.820C>T