Canonical Allele Identifier: CA2044515

Gene: MARS2

Linked Data

• ClinVar Variation Id: 379723
• ClinVar RCV Id: RCV000894129
• dbSNP Id: rs200490327
• ExAC: 2:198570253 G / A
• gnomAD v2: 2-198570253-G-A
• gnomAD v3: 2-197705529-G-A
• gnomAD v4: 2-197705529-G-A
• MyVariant Identifiers: chr2:g.198570253G>A (hg19) ; chr2:g.197705529G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.197705529G>A , CM000664.2:g.197705529G>A	GRCh38
NC_000002.11:g.198570253G>A , CM000664.1:g.198570253G>A	GRCh37
NC_000002.10:g.198278498G>A	NCBI36
NG_034122.1:g.5226G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282276.8:c.124G>A MANE Select	ENSP00000282276.6:p.Asp42Asn
ENST00000282276.7:c.124G>A	ENSP00000282276.6:p.Asp42Asn
NM_138395.3:c.124G>A	NP_612404.1:p.Asp42Asn
NM_138395.4:c.124G>A MANE Select	NP_612404.1:p.Asp42Asn