Canonical Allele Identifier: CA2285919301
Gene: MC2R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884860_13884863delinsGTGA , CM000680.2:g.13884860_13884863delinsGTGA GRCh38
NC_000018.9:g.13884859_13884862delinsGTGA , CM000680.1:g.13884859_13884862delinsGTGA GRCh37
NC_000018.8:g.13874859_13874862delinsGTGA NCBI36
NG_011819.1:g.35674_35677delinsTCAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.656_659delinsTCAC MANE Select ENSP00000333821.2:p.Ile219=
ENST00000327606.3:c.656_659delinsTCAC ENSP00000333821.2:p.Ile219=
NM_000529.2:c.656_659delinsTCAC MANE Select NP_000520.1:p.Ile219=
NM_001291911.1:c.656_659delinsTCAC NP_001278840.1:p.Ile219=
XM_017025781.1:c.656_659delinsTCAC XP_016881270.1:p.Ile219=