Canonical Allele Identifier: CA2580091225

Gene: EARS2

Linked Data

• ClinVar Variation Id: 2014473
• ClinVar RCV Id: RCV002861512

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23532782C>T , CM000678.2:g.23532782C>T	GRCh38
NC_000016.9:g.23544103C>T , CM000678.1:g.23544103C>T	GRCh37
NC_000016.8:g.23451604C>T	NCBI36
NG_027752.1:g.29594G>A
NG_027752.2:g.29594G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449606.7:c.959-17G>A MANE Select	ENSP00000395196.2:n.959-17G>A
ENST00000674054.1:c.959-17G>A	ENSP00000501251.1:n.959-17G>A
ENST00000449606.5:c.959-17G>A	ENSP00000395196.1:n.959-17G>A
ENST00000562402.1:n.563-17G>A
ENST00000563232.1:c.959-17G>A	ENSP00000456218.1:n.959-17G>A
ENST00000563459.5:c.959-17G>A	ENSP00000456467.1:n.959-17G>A
ENST00000564501.5:c.959-17G>A	ENSP00000457107.1:n.959-17G>A
ENST00000564987.1:n.583-17G>A
ENST00000565344.1:n.332-17G>A
NM_001083614.1:c.959-17G>A	NP_001077083.1:n.959-17G>A
NM_001308211.1:c.959-17G>A	NP_001295140.1:n.959-17G>A
NR_003501.1:n.991-17G>A
XM_011545738.1:c.887-17G>A	XP_011544040.1:n.887-17G>A
XM_011545739.1:c.680-17G>A	XP_011544041.1:n.680-17G>A
XR_001751841.1:n.1281-17G>A
NM_001083614.2:c.959-17G>A MANE Select	NP_001077083.1:n.959-17G>A
NR_003501.2:n.966-17G>A