Canonical Allele Identifier: CA988025198
Gene: MC2R HGNC NCBI

Linked Data

gnomAD v3: 18-13884913-GGAT-G
gnomAD v4: 18-13884913-GGAT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884914_13884916del , CM000680.2:g.13884914_13884916del GRCh38
NC_000018.9:g.13884913_13884915del , CM000680.1:g.13884913_13884915del GRCh37
NC_000018.8:g.13874913_13874915del NCBI36
NG_011819.1:g.35621_35623del

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.603_605del MANE Select ENSP00000333821.2:p.Ser202del
ENST00000327606.3:c.603_605del ENSP00000333821.2:p.Ser202del
NM_000529.2:c.603_605del MANE Select NP_000520.1:p.Ser202del
NM_001291911.1:c.603_605del NP_001278840.1:p.Ser202del
XM_017025781.1:c.603_605del XP_016881270.1:p.Ser202del
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