Canonical Allele Identifier: CA323908

Gene: MARS2

Linked Data

• ClinVar Variation Id: 1512982
• ClinVar RCV Id: RCV002023299
• dbSNP Id: rs140705634
• ExAC: 2:198570190 C / G
• gnomAD v2: 2-198570190-C-G
• gnomAD v3: 2-197705466-C-G
• gnomAD v4: 2-197705466-C-G
• MyVariant Identifiers: chr2:g.198570190C>G (hg19) ; chr2:g.197705466C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.197705466C>G , CM000664.2:g.197705466C>G	GRCh38
NC_000002.11:g.198570190C>G , CM000664.1:g.198570190C>G	GRCh37
NC_000002.10:g.198278435C>G	NCBI36
NG_034122.1:g.5163C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282276.8:c.61C>G MANE Select	ENSP00000282276.6:p.Leu21Val
ENST00000282276.7:c.61C>G	ENSP00000282276.6:p.Leu21Val
NM_138395.3:c.61C>G	NP_612404.1:p.Leu21Val
NM_138395.4:c.61C>G MANE Select	NP_612404.1:p.Leu21Val