Canonical Allele Identifier: CA2811045688
Gene: MC2R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884550T>C , CM000680.2:g.13884550T>C GRCh38
NC_000018.9:g.13884549T>C , CM000680.1:g.13884549T>C GRCh37
NC_000018.8:g.13874549T>C NCBI36
NG_011819.1:g.35987A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.*75A>G MANE Select ENSP00000333821.2:n.*75A>G
ENST00000327606.3:c.*75A>G ENSP00000333821.2:n.*75A>G
NM_000529.2:c.*75A>G MANE Select NP_000520.1:n.*75A>G
NM_001291911.1:c.*75A>G NP_001278840.1:n.*75A>G
XM_017025781.1:c.*75A>G XP_016881270.1:n.*75A>G