Canonical Allele Identifier: CA2641150777
Gene: MC2R HGNC NCBI

Linked Data

gnomAD v4: 18-13884869-CCT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884870_13884871del , CM000680.2:g.13884870_13884871del GRCh38
NC_000018.9:g.13884869_13884870del , CM000680.1:g.13884869_13884870del GRCh37
NC_000018.8:g.13874869_13874870del NCBI36
NG_011819.1:g.35666_35667del

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.648_649del MANE Select ENSP00000333821.2:p.Ala218HisfsTer?
ENST00000327606.3:c.648_649del ENSP00000333821.2:p.Ala218HisfsTer?
NM_000529.2:c.648_649del MANE Select NP_000520.1:p.Ala218HisfsTer?
NM_001291911.1:c.648_649del NP_001278840.1:p.Ala218HisfsTer?
XM_017025781.1:c.648_649del XP_016881270.1:p.Ala218HisfsTer?
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