Canonical Allele Identifier: CA401995697
Gene: MC2R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13885296G>T , CM000680.2:g.13885296G>T GRCh38
NC_000018.9:g.13885295G>T , CM000680.1:g.13885295G>T GRCh37
NC_000018.8:g.13875295G>T NCBI36
NG_011819.1:g.35241C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.223C>A MANE Select ENSP00000333821.2:p.Leu75Ile
ENST00000327606.3:c.223C>A ENSP00000333821.2:p.Leu75Ile
ENST00000399821.2:c.223C>A ENSP00000382718.2:p.Leu75Ile
NM_000529.2:c.223C>A MANE Select NP_000520.1:p.Leu75Ile
NM_001291911.1:c.223C>A NP_001278840.1:p.Leu75Ile
XM_017025781.1:c.223C>A XP_016881270.1:p.Leu75Ile