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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA628496351
Gene: MC2R
HGNC
NCBI
Linked Data
dbSNP Id:
rs1258952511
gnomAD v2:
18-13884596-TG-T
gnomAD v4:
18-13884597-TG-T
MyVariant Identifiers:
chr18:g.13884597del (hg19)
chr18:g.13884598del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.13884599del , CM000680.2:g.13884599del
GRCh38
NC_000018.9:g.13884598del , CM000680.1:g.13884598del
GRCh37
NC_000018.8:g.13874598del
NCBI36
NG_011819.1:g.35939del
Transcript Alleles
HGVS
Amino-acid change
ENST00000327606.4:c.*27del
MANE Select
ENSP00000333821.2:n.*27del
ENST00000327606.3:c.*27del
ENSP00000333821.2:n.*27del
NM_000529.2:c.*27del
MANE Select
NP_000520.1:n.*27del
NM_001291911.1:c.*27del
NP_001278840.1:n.*27del
XM_017025781.1:c.*27del
XP_016881270.1:n.*27del
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