Canonical Allele Identifier: CA2741569048
Gene: MC2R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13885042dup , CM000680.2:g.13885042dup GRCh38
NC_000018.9:g.13885041dup , CM000680.1:g.13885041dup GRCh37
NC_000018.8:g.13875041dup NCBI36
NG_011819.1:g.35498dup

Transcript Alleles

HGVS Amino-acid change
ENST00000327606.4:c.480dup MANE Select ENSP00000333821.2:p.Thr161AspfsTer?
ENST00000327606.3:c.480dup ENSP00000333821.2:p.Thr161AspfsTer?
NM_000529.2:c.480dup MANE Select NP_000520.1:p.Thr161AspfsTer?
NM_001291911.1:c.480dup NP_001278840.1:p.Thr161AspfsTer?
XM_017025781.1:c.480dup XP_016881270.1:p.Thr161AspfsTer?