Canonical Allele Identifier: CA401993657
Gene: MC2R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884667C>A , CM000680.2:g.13884667C>A GRCh38
NC_000018.9:g.13884666C>A , CM000680.1:g.13884666C>A GRCh37
NC_000018.8:g.13874666C>A NCBI36
NG_011819.1:g.35870G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000327606.4:c.852G>T MANE Select ENSP00000333821.2:p.Arg284Ser
ENST00000327606.3:c.852G>T ENSP00000333821.2:p.Arg284Ser
NM_000529.2:c.852G>T MANE Select NP_000520.1:p.Arg284Ser
NM_001291911.1:c.852G>T NP_001278840.1:p.Arg284Ser
XM_017025781.1:c.852G>T XP_016881270.1:p.Arg284Ser