Canonical Allele Identifier: CA2285919314
Gene: MC2R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884884_13884885delinsCT , CM000680.2:g.13884884_13884885delinsCT GRCh38
NC_000018.9:g.13884883_13884884delinsCT , CM000680.1:g.13884883_13884884delinsCT GRCh37
NC_000018.8:g.13874883_13874884delinsCT NCBI36
NG_011819.1:g.35652_35653delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.634_635delinsAG MANE Select ENSP00000333821.2:p.Arg212=
ENST00000327606.3:c.634_635delinsAG ENSP00000333821.2:p.Arg212=
NM_000529.2:c.634_635delinsAG MANE Select NP_000520.1:p.Arg212=
NM_001291911.1:c.634_635delinsAG NP_001278840.1:p.Arg212=
XM_017025781.1:c.634_635delinsAG XP_016881270.1:p.Arg212=