Canonical Allele Identifier: CA279512122

Gene: EARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23529241del , CM000678.2:g.23529241del	GRCh38
NC_000016.9:g.23540562del , CM000678.1:g.23540562del	GRCh37
NC_000016.8:g.23448063del	NCBI36
NG_027752.1:g.33136del
NG_027752.2:g.33136del

Transcript Alleles

HGVS	Amino-acid Change
NM_001083614.2:c.1352+262del MANE Select	NP_001077083.1:n.1352+262del
ENST00000449606.7:c.1352+262del MANE Select	ENSP00000395196.2:n.1352+262del
NM_001083614.1:c.1352+262del	NP_001077083.1:n.1352+262del
NM_001308211.1:c.1352+262del	NP_001295140.1:n.1352+262del
NR_003501.1:n.1384+262del
NR_003501.2:n.1359+262del
ENST00000449606.5:c.1352+262del	ENSP00000395196.1:n.1352+262del
ENST00000563232.1:c.1352+262del	ENSP00000456218.1:n.1352+262del
ENST00000563459.5:c.1352+262del	ENSP00000456467.1:n.1352+262del
ENST00000564501.5:c.1352+262del	ENSP00000457107.1:n.1352+262del
ENST00000564987.1:n.996+262del
ENST00000674054.1:c.1352+262del	ENSP00000501251.1:n.1352+262del
XM_011545738.1:c.1280+262del	XP_011544040.1:n.1280+262del
XM_011545739.1:c.1073+262del	XP_011544041.1:n.1073+262del
XR_001751841.1:n.1674+262del