Canonical Allele Identifier: CA2285919461
Gene: MC2R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13885192C= , CM000680.2:g.13885192C= GRCh38
NC_000018.9:g.13885191C= , CM000680.1:g.13885191C= GRCh37
NC_000018.8:g.13875191C= NCBI36
NG_011819.1:g.35345G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.327G= MANE Select ENSP00000333821.2:p.Leu109=
ENST00000327606.3:c.327G= ENSP00000333821.2:p.Leu109=
ENST00000399821.2:c.327G= ENSP00000382718.2:p.Leu109=
NM_000529.2:c.327G= MANE Select NP_000520.1:p.Leu109=
NM_001291911.1:c.327G= NP_001278840.1:p.Leu109=
XM_017025781.1:c.327G= XP_016881270.1:p.Leu109=