Canonical Allele Identifier: CA2285919164
Gene: MC2R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884597_13884598delinsTG , CM000680.2:g.13884597_13884598delinsTG GRCh38
NC_000018.9:g.13884596_13884597delinsTG , CM000680.1:g.13884596_13884597delinsTG GRCh37
NC_000018.8:g.13874596_13874597delinsTG NCBI36
NG_011819.1:g.35939_35940delinsCA

Transcript Alleles

HGVS Amino-acid change
ENST00000327606.4:c.*27_*28delinsCA MANE Select ENSP00000333821.2:n.*27_*28delinsCA
ENST00000327606.3:c.*27_*28delinsCA ENSP00000333821.2:n.*27_*28delinsCA
NM_000529.2:c.*27_*28delinsCA MANE Select NP_000520.1:n.*27_*28delinsCA
NM_001291911.1:c.*27_*28delinsCA NP_001278840.1:n.*27_*28delinsCA
XM_017025781.1:c.*27_*28delinsCA XP_016881270.1:n.*27_*28delinsCA