Canonical Allele Identifier: CA401994176
Gene: MC2R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884786A>T , CM000680.2:g.13884786A>T GRCh38
NC_000018.9:g.13884785A>T , CM000680.1:g.13884785A>T GRCh37
NC_000018.8:g.13874785A>T NCBI36
NG_011819.1:g.35751T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000327606.4:c.733T>A MANE Select ENSP00000333821.2:p.Cys245Ser
ENST00000327606.3:c.733T>A ENSP00000333821.2:p.Cys245Ser
NM_000529.2:c.733T>A MANE Select NP_000520.1:p.Cys245Ser
NM_001291911.1:c.733T>A NP_001278840.1:p.Cys245Ser
XM_017025781.1:c.733T>A XP_016881270.1:p.Cys245Ser