Canonical Allele Identifier: CA2044620

Gene: MARS2

Linked Data

• ClinVar Variation Id: 1491045
• ClinVar RCV Id: RCV001986242
• dbSNP Id: rs937866756
• ExAC: 2:198570818 C / G
• gnomAD v2: 2-198570818-C-G
• gnomAD v3: 2-197706094-C-G
• gnomAD v4: 2-197706094-C-G
• MyVariant Identifiers: chr2:g.198570818C>G (hg19) ; chr2:g.198570818_198570819delinsGT (hg19) ; chr2:g.197706094C>G (hg38) ; chr2:g.197706094_197706095delinsGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.197706094C>G , CM000664.2:g.197706094C>G	GRCh38
NC_000002.11:g.198570818C>G , CM000664.1:g.198570818C>G	GRCh37
NC_000002.10:g.198279063C>G	NCBI36
NG_034122.1:g.5791C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282276.8:c.689C>G MANE Select	ENSP00000282276.6:p.Pro230Arg
ENST00000282276.7:c.689C>G	ENSP00000282276.6:p.Pro230Arg
NM_138395.3:c.689C>G	NP_612404.1:p.Pro230Arg
NM_138395.4:c.689C>G MANE Select	NP_612404.1:p.Pro230Arg