Canonical Allele Identifier: CA14243476

Gene: EARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23544405C>T , CM000678.2:g.23544405C>T	GRCh38
NC_000016.9:g.23555726C>T , CM000678.1:g.23555726C>T	GRCh37
NC_000016.8:g.23463227C>T	NCBI36
NG_027752.1:g.17971G>A
NG_027752.2:g.17971G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001083614.2:c.485+109G>A MANE Select	NP_001077083.1:n.485+109G>A
ENST00000449606.7:c.485+109G>A MANE Select	ENSP00000395196.2:n.485+109G>A
NM_001083614.1:c.485+109G>A	NP_001077083.1:n.485+109G>A
NM_001308211.1:c.485+109G>A	NP_001295140.1:n.485+109G>A
NR_003501.1:n.517+109G>A
NR_003501.2:n.492+109G>A
ENST00000449606.5:c.485+109G>A	ENSP00000395196.1:n.485+109G>A
ENST00000563232.1:c.485+109G>A	ENSP00000456218.1:n.485+109G>A
ENST00000563459.5:c.485+109G>A	ENSP00000456467.1:n.485+109G>A
ENST00000564501.5:c.485+109G>A	ENSP00000457107.1:n.485+109G>A
ENST00000564668.5:c.*265+109G>A	ENSP00000455789.1:n.*265+109G>A
ENST00000564987.1:n.109+109G>A
ENST00000566017.5:n.452+109G>A
ENST00000674054.1:c.485+109G>A	ENSP00000501251.1:n.485+109G>A
XM_011545738.1:c.413+109G>A	XP_011544040.1:n.413+109G>A
XM_011545739.1:c.206+109G>A	XP_011544041.1:n.206+109G>A
XR_001751841.1:n.807+109G>A