Canonical Allele Identifier: CA628496355
Gene: MC2R HGNC NCBI

Linked Data

dbSNP Id: rs1475068093

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884754_13884760del , CM000680.2:g.13884754_13884760del GRCh38
NC_000018.9:g.13884753_13884759del , CM000680.1:g.13884753_13884759del GRCh37
NC_000018.8:g.13874753_13874759del NCBI36
NG_011819.1:g.35775_35781del

Transcript Alleles

HGVS Amino-acid change
ENST00000327606.3:c.757_763del ENSP00000333821.2:p.Tyr254LeufsTer5
NM_000529.2:c.757_763del MANE Select NP_000520.1:p.Tyr254LeufsTer5
NM_001291911.1:c.757_763del NP_001278840.1:p.Tyr254LeufsTer5
XM_017025781.1:c.757_763del XP_016881270.1:p.Tyr254LeufsTer5