Canonical Allele Identifier: CA130557

Gene: EARS2

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23544677G>A , CM000678.2:g.23544677G>A	GRCh38
NC_000016.9:g.23555998G>A , CM000678.1:g.23555998G>A	GRCh37
NC_000016.8:g.23463499G>A	NCBI36
NG_027752.1:g.17699C>T
NG_027752.2:g.17699C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449606.7:c.322C>T MANE Select	ENSP00000395196.2:p.Arg108Trp
ENST00000674054.1:c.322C>T	ENSP00000501251.1:p.Arg108Trp
ENST00000449606.5:c.322C>T	ENSP00000395196.1:p.Arg108Trp
ENST00000561859.5:n.382C>T
ENST00000562581.5:c.*195C>T	ENSP00000455519.1:n.*195C>T
ENST00000563232.1:c.322C>T	ENSP00000456218.1:p.Arg108Trp
ENST00000563459.5:c.322C>T	ENSP00000456467.1:p.Arg108Trp
ENST00000564461.5:n.506C>T
ENST00000564501.5:c.322C>T	ENSP00000457107.1:p.Arg108Trp
ENST00000564668.5:c.*102C>T	ENSP00000455789.1:n.*102C>T
ENST00000564987.1:n.60-114C>T
ENST00000564997.1:c.*199C>T	ENSP00000455875.1:n.*199C>T
ENST00000566017.5:n.289C>T
NM_001083614.1:c.322C>T	NP_001077083.1:p.Arg108Trp
NM_001308211.1:c.322C>T	NP_001295140.1:p.Arg108Trp
NR_003501.1:n.354C>T
XM_011545738.1:c.250C>T	XP_011544040.1:p.Arg84Trp
XM_011545739.1:c.43C>T	XP_011544041.1:p.Arg15Trp
XR_001751841.1:n.644C>T
NM_001083614.2:c.322C>T MANE Select	NP_001077083.1:p.Arg108Trp
NR_003501.2:n.329C>T