Canonical Allele Identifier: CA2695227237
Gene: MC2R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884657dup , CM000680.2:g.13884657dup GRCh38
NC_000018.9:g.13884656dup , CM000680.1:g.13884656dup GRCh37
NC_000018.8:g.13874656dup NCBI36
NG_011819.1:g.35884dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.866dup MANE Select ENSP00000333821.2:p.Met290AspfsTer?
ENST00000327606.3:c.866dup ENSP00000333821.2:p.Met290AspfsTer?
NM_000529.2:c.866dup MANE Select NP_000520.1:p.Met290AspfsTer?
NM_001291911.1:c.866dup NP_001278840.1:p.Met290AspfsTer?
XM_017025781.1:c.866dup XP_016881270.1:p.Met290AspfsTer?