Canonical Allele Identifier: CA395133381

Gene: EARS2

Linked Data

• gnomAD v4: 16-23535047-G-T
• MyVariant Identifiers: chr16:g.23546368G>T (hg19) ; chr16:g.23535047G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23535047G>T , CM000678.2:g.23535047G>T	GRCh38
NC_000016.9:g.23546368G>T , CM000678.1:g.23546368G>T	GRCh37
NC_000016.8:g.23453869G>T	NCBI36
NG_027752.1:g.27329C>A
NG_027752.2:g.27329C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000449606.7:c.799C>A MANE Select	ENSP00000395196.2:p.Gln267Lys
ENST00000674054.1:c.799C>A	ENSP00000501251.1:p.Gln267Lys
ENST00000449606.5:c.799C>A	ENSP00000395196.1:p.Gln267Lys
ENST00000562402.1:n.403C>A
ENST00000563232.1:c.799C>A	ENSP00000456218.1:p.Gln267Lys
ENST00000563459.5:c.799C>A	ENSP00000456467.1:p.Gln267Lys
ENST00000564501.5:c.799C>A	ENSP00000457107.1:p.Gln267Lys
ENST00000564987.1:n.423C>A
ENST00000565344.1:n.172C>A
NM_001083614.1:c.799C>A	NP_001077083.1:p.Gln267Lys
NM_001308211.1:c.799C>A	NP_001295140.1:p.Gln267Lys
NR_003501.1:n.831C>A
XM_011545738.1:c.727C>A	XP_011544040.1:p.Gln243Lys
XM_011545739.1:c.520C>A	XP_011544041.1:p.Gln174Lys
XR_001751841.1:n.1121C>A
NM_001083614.2:c.799C>A MANE Select	NP_001077083.1:p.Gln267Lys
NR_003501.2:n.806C>A