Canonical Allele Identifier: CA7962767

Gene: EARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23557313G>T , CM000678.2:g.23557313G>T	GRCh38
NC_000016.9:g.23568634G>T , CM000678.1:g.23568634G>T	GRCh37
NC_000016.8:g.23476135G>T	NCBI36
NG_027752.1:g.5063C>A
NG_027752.2:g.5063C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001083614.2:c.31C>A MANE Select	NP_001077083.1:p.Arg11Ser
ENST00000449606.7:c.31C>A MANE Select	ENSP00000395196.2:p.Arg11Ser
NM_001083614.1:c.31C>A	NP_001077083.1:p.Arg11Ser
NM_001308211.1:c.31C>A	NP_001295140.1:p.Arg11Ser
NR_003501.1:n.63C>A
NR_003501.2:n.38C>A
ENST00000449606.5:c.31C>A	ENSP00000395196.1:p.Arg11Ser
ENST00000561859.5:n.38C>A
ENST00000562581.5:c.31C>A	ENSP00000455519.1:p.Arg11Ser
ENST00000562799.1:n.38C>A
ENST00000563232.1:c.31C>A	ENSP00000456218.1:p.Arg11Ser
ENST00000563459.5:c.31C>A	ENSP00000456467.1:p.Arg11Ser
ENST00000563499.1:c.31C>A	ENSP00000458604.1:p.Arg11Ser
ENST00000564501.5:c.31C>A	ENSP00000457107.1:p.Arg11Ser
ENST00000564668.5:c.31C>A	ENSP00000455789.1:p.Arg11Ser
ENST00000564997.1:c.31C>A	ENSP00000455875.1:p.Arg11Ser
ENST00000674054.1:c.31C>A	ENSP00000501251.1:p.Arg11Ser
XM_011545738.1:c.-357C>A	XP_011544040.1:n.-357C>A
XR_001751841.1:n.38C>A