Canonical Allele Identifier: CA2285919242
Gene: MC2R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884726_13884727delinsTC , CM000680.2:g.13884726_13884727delinsTC GRCh38
NC_000018.9:g.13884725_13884726delinsTC , CM000680.1:g.13884725_13884726delinsTC GRCh37
NC_000018.8:g.13874725_13874726delinsTC NCBI36
NG_011819.1:g.35810_35811delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.792_793delinsGA MANE Select ENSP00000333821.2:p.Leu264=
ENST00000327606.3:c.792_793delinsGA ENSP00000333821.2:p.Leu264=
NM_000529.2:c.792_793delinsGA MANE Select NP_000520.1:p.Leu264=
NM_001291911.1:c.792_793delinsGA NP_001278840.1:p.Leu264=
XM_017025781.1:c.792_793delinsGA XP_016881270.1:p.Leu264=