Canonical Allele Identifier: CA2044631

Gene: MARS2

Linked Data

• ClinVar Variation Id: 2190815
• ClinVar RCV Id: RCV002628263 ; RCV004070560
• dbSNP Id: rs763707988
• ExAC: 2:198570874 G / A
• gnomAD v2: 2-198570874-G-A
• gnomAD v3: 2-197706150-G-A
• gnomAD v4: 2-197706150-G-A
• MyVariant Identifiers: chr2:g.198570874G>A (hg19) ; chr2:g.197706150G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.197706150G>A , CM000664.2:g.197706150G>A	GRCh38
NC_000002.11:g.198570874G>A , CM000664.1:g.198570874G>A	GRCh37
NC_000002.10:g.198279119G>A	NCBI36
NG_034122.1:g.5847G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282276.8:c.745G>A MANE Select	ENSP00000282276.6:p.Glu249Lys
ENST00000282276.7:c.745G>A	ENSP00000282276.6:p.Glu249Lys
NM_138395.3:c.745G>A	NP_612404.1:p.Glu249Lys
NM_138395.4:c.745G>A MANE Select	NP_612404.1:p.Glu249Lys