Canonical Allele Identifier: CA2838239017

Gene: EARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23535129dup , CM000678.2:g.23535129dup	GRCh38
NC_000016.9:g.23546450dup , CM000678.1:g.23546450dup	GRCh37
NC_000016.8:g.23453951dup	NCBI36
NG_027752.1:g.27249dup
NG_027752.2:g.27249dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449606.7:c.719dup MANE Select	ENSP00000395196.2:p.Ile241HisfsTer9
ENST00000674054.1:c.719dup	ENSP00000501251.1:p.Ile241HisfsTer9
ENST00000449606.5:c.719dup	ENSP00000395196.1:p.Ile241HisfsTer9
ENST00000562402.1:n.323dup
ENST00000563232.1:c.719dup	ENSP00000456218.1:p.Ile241HisfsTer9
ENST00000563459.5:c.719dup	ENSP00000456467.1:p.Ile241HisfsTer9
ENST00000564501.5:c.719dup	ENSP00000457107.1:p.Ile241HisfsTer9
ENST00000564987.1:n.343dup
ENST00000565344.1:n.92dup
NM_001083614.1:c.719dup	NP_001077083.1:p.Ile241HisfsTer9
NM_001308211.1:c.719dup	NP_001295140.1:p.Ile241HisfsTer9
NR_003501.1:n.751dup
XM_011545738.1:c.647dup	XP_011544040.1:p.Ile217HisfsTer9
XM_011545739.1:c.440dup	XP_011544041.1:p.Ile148HisfsTer9
XR_001751841.1:n.1041dup
NM_001083614.2:c.719dup MANE Select	NP_001077083.1:p.Ile241HisfsTer9
NR_003501.2:n.726dup