Canonical Allele Identifier: CA2285919173
Gene: MC2R HGNC NCBI

Linked Data

dbSNP Id: rs2045260347
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884607_13884612del , CM000680.2:g.13884607_13884612del GRCh38
NC_000018.9:g.13884606_13884611del , CM000680.1:g.13884606_13884611del GRCh37
NC_000018.8:g.13874606_13874611del NCBI36
NG_011819.1:g.35925_35930del

Transcript Alleles

HGVS Amino-acid change
ENST00000327606.4:c.*13_*18del MANE Select ENSP00000333821.2:n.*13_*18del
ENST00000327606.3:c.*13_*18del ENSP00000333821.2:n.*13_*18del
NM_000529.2:c.*13_*18del MANE Select NP_000520.1:n.*13_*18del
NM_001291911.1:c.*13_*18del NP_001278840.1:n.*13_*18del
XM_017025781.1:c.*13_*18del XP_016881270.1:n.*13_*18del
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