Canonical Allele Identifier: CA296828874
Gene: MC2R HGNC NCBI

Linked Data

dbSNP Id: rs148217376

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13885220_13885221insGT , CM000680.2:g.13885220_13885221insGT GRCh38
NC_000018.9:g.13885219_13885220insGT , CM000680.1:g.13885219_13885220insGT GRCh37
NC_000018.8:g.13875219_13875220insGT NCBI36
NG_011819.1:g.35316_35317insAC

Transcript Alleles

HGVS Amino-acid change
ENST00000327606.4:c.298_299insAC MANE Select ENSP00000333821.2:p.Thr100AsnfsTer25
ENST00000327606.3:c.298_299insAC ENSP00000333821.2:p.Thr100AsnfsTer25
ENST00000399821.2:c.298_299insAC ENSP00000382718.2:p.Thr100AsnfsTer25
NM_000529.2:c.298_299insAC MANE Select NP_000520.1:p.Thr100AsnfsTer25
NM_001291911.1:c.298_299insAC NP_001278840.1:p.Thr100AsnfsTer25
XM_017025781.1:c.298_299insAC XP_016881270.1:p.Thr100AsnfsTer25