Canonical Allele Identifier: CA7962247

Gene: EARS2

Linked Data

• ClinVar Variation Id: 265109
• ClinVar RCV Id: RCV000254773 ; RCV000763375 ; RCV003156088 ; RCV003235167
• dbSNP Id: rs201727231
• ExAC: 16:23535717 C / T
• gnomAD v2: 16-23535717-C-T
• gnomAD v3: 16-23524396-C-T
• gnomAD v4: 16-23524396-C-T
• COSMIC: COSM968787
• MyVariant Identifiers: chr16:g.23535717C>T (hg19) ; chr16:g.23524396C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23524396C>T , CM000678.2:g.23524396C>T	GRCh38
NC_000016.9:g.23535717C>T , CM000678.1:g.23535717C>T	GRCh37
NC_000016.8:g.23443218C>T	NCBI36
NG_027752.1:g.37980G>A
NG_027752.2:g.37980G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449606.7:c.1547G>A MANE Select	ENSP00000395196.2:p.Arg516Gln
ENST00000674054.1:c.1547G>A	ENSP00000501251.1:p.Arg516Gln
ENST00000449606.5:c.1547G>A	ENSP00000395196.1:p.Arg516Gln
ENST00000563459.5:c.1547G>A	ENSP00000456467.1:p.Arg516Gln
ENST00000564987.1:n.1191G>A
NM_001083614.1:c.1547G>A	NP_001077083.1:p.Arg516Gln
NR_003501.1:n.1579G>A
XM_011545738.1:c.1475G>A	XP_011544040.1:p.Arg492Gln
XM_011545739.1:c.1268G>A	XP_011544041.1:p.Arg423Gln
XR_001751841.1:n.1869G>A
NM_001083614.2:c.1547G>A MANE Select	NP_001077083.1:p.Arg516Gln
NR_003501.2:n.1554G>A