Canonical Allele Identifier: CA2841565743
Gene: MC2R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884545T>G , CM000680.2:g.13884545T>G GRCh38
NC_000018.9:g.13884544T>G , CM000680.1:g.13884544T>G GRCh37
NC_000018.8:g.13874544T>G NCBI36
NG_011819.1:g.35992A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.*80A>C MANE Select ENSP00000333821.2:n.*80A>C
ENST00000327606.3:c.*80A>C ENSP00000333821.2:n.*80A>C
NM_000529.2:c.*80A>C MANE Select NP_000520.1:n.*80A>C
NM_001291911.1:c.*80A>C NP_001278840.1:n.*80A>C
XM_017025781.1:c.*80A>C XP_016881270.1:n.*80A>C