Canonical Allele Identifier: CA2044675
Gene: MARS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1978873
ClinVar RCV Id: RCV002765969
dbSNP Id: rs776469200
ExAC: 2:198571142 A / G
gnomAD v2: 2-198571142-A-G
gnomAD v3: 2-197706418-A-G
gnomAD v4: 2-197706418-A-G
MyVariant Identifiers: chr2:g.198571142A>G (hg19) chr2:g.197706418A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.197706418A>G , CM000664.2:g.197706418A>G GRCh38
NC_000002.11:g.198571142A>G , CM000664.1:g.198571142A>G GRCh37
NC_000002.10:g.198279387A>G NCBI36
NG_034122.1:g.6115A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000282276.8:c.1013A>G MANE Select ENSP00000282276.6:p.His338Arg
ENST00000282276.7:c.1013A>G ENSP00000282276.6:p.His338Arg
NM_138395.3:c.1013A>G NP_612404.1:p.His338Arg
NM_138395.4:c.1013A>G MANE Select NP_612404.1:p.His338Arg
Search 100 bp 5'
Search 100 bp 3'