Canonical Allele Identifier: CA395133291

Gene: EARS2

Linked Data

• ClinVar Variation Id: 1513799
• ClinVar RCV Id: RCV002026353
• dbSNP Id: rs749912939
• gnomAD v4: 16-23535032-C-A
• MyVariant Identifiers: chr16:g.23546353C>A (hg19) ; chr16:g.23535032C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23535032C>A , CM000678.2:g.23535032C>A	GRCh38
NC_000016.9:g.23546353C>A , CM000678.1:g.23546353C>A	GRCh37
NC_000016.8:g.23453854C>A	NCBI36
NG_027752.1:g.27344G>T
NG_027752.2:g.27344G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449606.7:c.814G>T MANE Select	ENSP00000395196.2:p.Ala272Ser
ENST00000674054.1:c.814G>T	ENSP00000501251.1:p.Ala272Ser
ENST00000449606.5:c.814G>T	ENSP00000395196.1:p.Ala272Ser
ENST00000562402.1:n.418G>T
ENST00000563232.1:c.814G>T	ENSP00000456218.1:p.Ala272Ser
ENST00000563459.5:c.814G>T	ENSP00000456467.1:p.Ala272Ser
ENST00000564501.5:c.814G>T	ENSP00000457107.1:p.Ala272Ser
ENST00000564987.1:n.438G>T
ENST00000565344.1:n.187G>T
NM_001083614.1:c.814G>T	NP_001077083.1:p.Ala272Ser
NM_001308211.1:c.814G>T	NP_001295140.1:p.Ala272Ser
NR_003501.1:n.846G>T
XM_011545738.1:c.742G>T	XP_011544040.1:p.Ala248Ser
XM_011545739.1:c.535G>T	XP_011544041.1:p.Ala179Ser
XR_001751841.1:n.1136G>T
NM_001083614.2:c.814G>T MANE Select	NP_001077083.1:p.Ala272Ser
NR_003501.2:n.821G>T