Canonical Allele Identifier: CA2843593052

Gene: EARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23535147_23535149del , CM000678.2:g.23535147_23535149del	GRCh38
NC_000016.9:g.23546468_23546470del , CM000678.1:g.23546468_23546470del	GRCh37
NC_000016.8:g.23453969_23453971del	NCBI36
NG_027752.1:g.27231_27233del
NG_027752.2:g.27231_27233del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449606.7:c.701_703del MANE Select	ENSP00000395196.2:p.Val234del
ENST00000674054.1:c.701_703del	ENSP00000501251.1:p.Val234del
ENST00000449606.5:c.701_703del	ENSP00000395196.1:p.Val234del
ENST00000562402.1:n.305_307del
ENST00000563232.1:c.701_703del	ENSP00000456218.1:p.Val234del
ENST00000563459.5:c.701_703del	ENSP00000456467.1:p.Val234del
ENST00000564501.5:c.701_703del	ENSP00000457107.1:p.Val234del
ENST00000564987.1:n.325_327del
ENST00000565344.1:n.74_76del
NM_001083614.1:c.701_703del	NP_001077083.1:p.Val234del
NM_001308211.1:c.701_703del	NP_001295140.1:p.Val234del
NR_003501.1:n.733_735del
XM_011545738.1:c.629_631del	XP_011544040.1:p.Val210del
XM_011545739.1:c.422_424del	XP_011544041.1:p.Val141del
XR_001751841.1:n.1023_1025del
NM_001083614.2:c.701_703del MANE Select	NP_001077083.1:p.Val234del
NR_003501.2:n.708_710del