Canonical Allele Identifier: CA395133988

Gene: EARS2

Linked Data

• ClinVar Variation Id: 521148
• ClinVar RCV Id: RCV000623616
• dbSNP Id: rs1555503400
• MyVariant Identifiers: chr16:g.23546480G>C (hg19) ; chr16:g.23535159G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23535159G>C , CM000678.2:g.23535159G>C	GRCh38
NC_000016.9:g.23546480G>C , CM000678.1:g.23546480G>C	GRCh37
NC_000016.8:g.23453981G>C	NCBI36
NG_027752.1:g.27217C>G
NG_027752.2:g.27217C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449606.7:c.687C>G MANE Select	ENSP00000395196.2:p.His229Gln
ENST00000674054.1:c.687C>G	ENSP00000501251.1:p.His229Gln
ENST00000449606.5:c.687C>G	ENSP00000395196.1:p.His229Gln
ENST00000562402.1:n.291C>G
ENST00000563232.1:c.687C>G	ENSP00000456218.1:p.His229Gln
ENST00000563459.5:c.687C>G	ENSP00000456467.1:p.His229Gln
ENST00000564501.5:c.687C>G	ENSP00000457107.1:p.His229Gln
ENST00000564987.1:n.311C>G
ENST00000565344.1:n.60C>G
NM_001083614.1:c.687C>G	NP_001077083.1:p.His229Gln
NM_001308211.1:c.687C>G	NP_001295140.1:p.His229Gln
NR_003501.1:n.719C>G
XM_011545738.1:c.615C>G	XP_011544040.1:p.His205Gln
XM_011545739.1:c.408C>G	XP_011544041.1:p.His136Gln
XR_001751841.1:n.1009C>G
NM_001083614.2:c.687C>G MANE Select	NP_001077083.1:p.His229Gln
NR_003501.2:n.694C>G