Canonical Allele Identifier: CA290702

Gene: EARS2

Linked Data

• ClinVar Variation Id: 137189
• ClinVar RCV Id: RCV000124864
• dbSNP Id: rs587780932
• MyVariant Identifiers: chr16:g.23568650C>G (hg19) ; chr16:g.23557329C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23557329C>G , CM000678.2:g.23557329C>G	GRCh38
NC_000016.9:g.23568650C>G , CM000678.1:g.23568650C>G	GRCh37
NC_000016.8:g.23476151C>G	NCBI36
NG_027752.1:g.5047G>C
NG_027752.2:g.5047G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449606.7:c.15G>C MANE Select	ENSP00000395196.2:p.Leu5=
ENST00000674054.1:c.15G>C	ENSP00000501251.1:p.Leu5=
ENST00000449606.5:c.15G>C	ENSP00000395196.1:p.Leu5=
ENST00000561859.5:n.22G>C
ENST00000562581.5:c.15G>C	ENSP00000455519.1:p.Leu5=
ENST00000562799.1:n.22G>C
ENST00000563232.1:c.15G>C	ENSP00000456218.1:p.Leu5=
ENST00000563459.5:c.15G>C	ENSP00000456467.1:p.Leu5=
ENST00000563499.1:c.15G>C	ENSP00000458604.1:p.Leu5=
ENST00000564501.5:c.15G>C	ENSP00000457107.1:p.Leu5=
ENST00000564668.5:c.15G>C	ENSP00000455789.1:p.Leu5=
ENST00000564997.1:c.15G>C	ENSP00000455875.1:p.Leu5=
NM_001083614.1:c.15G>C	NP_001077083.1:p.Leu5=
NM_001308211.1:c.15G>C	NP_001295140.1:p.Leu5=
NR_003501.1:n.47G>C
XM_011545738.1:c.-373G>C	XP_011544040.1:n.-373G>C
XR_001751841.1:n.22G>C
NM_001083614.2:c.15G>C MANE Select	NP_001077083.1:p.Leu5=
NR_003501.2:n.22G>C