Canonical Allele Identifier: CA621345436

Gene: EARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23524664dup , CM000678.2:g.23524664dup	GRCh38
NC_000016.9:g.23535985dup , CM000678.1:g.23535985dup	GRCh37
NC_000016.8:g.23443486dup	NCBI36
NG_027752.1:g.37729dup
NG_027752.2:g.37729dup

Transcript Alleles

HGVS	Amino-acid Change
NM_001083614.2:c.1489-193dup MANE Select	NP_001077083.1:n.1489-193dup
ENST00000449606.7:c.1489-193dup MANE Select	ENSP00000395196.2:n.1489-193dup
NM_001083614.1:c.1489-193dup	NP_001077083.1:n.1489-193dup
NR_003501.1:n.1521-193dup
NR_003501.2:n.1496-193dup
ENST00000449606.5:c.1489-193dup	ENSP00000395196.1:n.1489-193dup
ENST00000563459.5:c.1489-193dup	ENSP00000456467.1:n.1489-193dup
ENST00000564987.1:n.1133-193dup
ENST00000674054.1:c.1489-193dup	ENSP00000501251.1:n.1489-193dup
XM_011545738.1:c.1417-193dup	XP_011544040.1:n.1417-193dup
XM_011545739.1:c.1210-193dup	XP_011544041.1:n.1210-193dup
XR_001751841.1:n.1811-193dup