Canonical Allele Identifier: CA2285919343
Gene: MC2R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884931_13884933delinsCAT , CM000680.2:g.13884931_13884933delinsCAT GRCh38
NC_000018.9:g.13884930_13884932delinsCAT , CM000680.1:g.13884930_13884932delinsCAT GRCh37
NC_000018.8:g.13874930_13874932delinsCAT NCBI36
NG_011819.1:g.35604_35606delinsATG

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.586_588delinsATG MANE Select ENSP00000333821.2:p.Met196=
ENST00000327606.3:c.586_588delinsATG ENSP00000333821.2:p.Met196=
NM_000529.2:c.586_588delinsATG MANE Select NP_000520.1:p.Met196=
NM_001291911.1:c.586_588delinsATG NP_001278840.1:p.Met196=
XM_017025781.1:c.586_588delinsATG XP_016881270.1:p.Met196=