Canonical Allele Identifier: CA2830782805
Gene: MC2R HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13885374del , CM000680.2:g.13885374del GRCh38
NC_000018.9:g.13885373del , CM000680.1:g.13885373del GRCh37
NC_000018.8:g.13875373del NCBI36
NG_011819.1:g.35163del

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.145del MANE Select ENSP00000333821.2:p.Val49CysfsTer?
ENST00000327606.3:c.145del ENSP00000333821.2:p.Val49CysfsTer?
ENST00000399821.2:c.145del ENSP00000382718.2:p.Val49CysfsTer?
NM_000529.2:c.145del MANE Select NP_000520.1:p.Val49CysfsTer?
NM_001291911.1:c.145del NP_001278840.1:p.Val49CysfsTer?
XM_017025781.1:c.145del XP_016881270.1:p.Val49CysfsTer?
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