Canonical Allele Identifier: CA2285919452
Gene: MC2R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13885161_13885162delinsTG , CM000680.2:g.13885161_13885162delinsTG GRCh38
NC_000018.9:g.13885160_13885161delinsTG , CM000680.1:g.13885160_13885161delinsTG GRCh37
NC_000018.8:g.13875160_13875161delinsTG NCBI36
NG_011819.1:g.35375_35376delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.357_358delinsCA MANE Select ENSP00000333821.2:p.Phe119=
ENST00000327606.3:c.357_358delinsCA ENSP00000333821.2:p.Phe119=
ENST00000399821.2:c.357_358delinsCA ENSP00000382718.2:p.Phe119=
NM_000529.2:c.357_358delinsCA MANE Select NP_000520.1:p.Phe119=
NM_001291911.1:c.357_358delinsCA NP_001278840.1:p.Phe119=
XM_017025781.1:c.357_358delinsCA XP_016881270.1:p.Phe119=