Canonical Allele Identifier: CA401994093
Gene: MC2R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884769G>C , CM000680.2:g.13884769G>C GRCh38
NC_000018.9:g.13884768G>C , CM000680.1:g.13884768G>C GRCh37
NC_000018.8:g.13874768G>C NCBI36
NG_011819.1:g.35768C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000327606.3:c.750C>G ENSP00000333821.2:p.Tyr250Ter
NM_000529.2:c.750C>G MANE Select NP_000520.1:p.Tyr250Ter
NM_001291911.1:c.750C>G NP_001278840.1:p.Tyr250Ter
XM_017025781.1:c.750C>G XP_016881270.1:p.Tyr250Ter