Canonical Allele Identifier: CA2641150769
Gene: MC2R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884668del , CM000680.2:g.13884668del GRCh38
NC_000018.9:g.13884667del , CM000680.1:g.13884667del GRCh37
NC_000018.8:g.13874667del NCBI36
NG_011819.1:g.35871del

Transcript Alleles

HGVS Amino-acid change
ENST00000327606.4:c.853del MANE Select ENSP00000333821.2:p.Asp285ThrfsTer6
ENST00000327606.3:c.853del ENSP00000333821.2:p.Asp285ThrfsTer6
NM_000529.2:c.853del MANE Select NP_000520.1:p.Asp285ThrfsTer6
NM_001291911.1:c.853del NP_001278840.1:p.Asp285ThrfsTer6
XM_017025781.1:c.853del XP_016881270.1:p.Asp285ThrfsTer6