Canonical Allele Identifier: CA2285919068
Gene: MC2R HGNC NCBI

Linked Data

dbSNP Id: rs2045258267
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884433_13884439del , CM000680.2:g.13884433_13884439del GRCh38
NC_000018.9:g.13884432_13884438del , CM000680.1:g.13884432_13884438del GRCh37
NC_000018.8:g.13874432_13874438del NCBI36
NG_011819.1:g.36100_36106del

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.*188_*194del MANE Select ENSP00000333821.2:n.*188_*194del
ENST00000327606.3:c.*188_*194del ENSP00000333821.2:n.*188_*194del
NM_000529.2:c.*188_*194del MANE Select NP_000520.1:n.*188_*194del
NM_001291911.1:c.*188_*194del NP_001278840.1:n.*188_*194del
XM_017025781.1:c.*188_*194del XP_016881270.1:n.*188_*194del
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