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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:
CA116124
Gene: MC2R
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3266
ClinVar RCV Id:
RCV000003422
dbSNP Id:
rs28940892
MyVariant Identifiers:
chr18:g.13884757T>C (hg19)
chr18:g.13884758T>C (hg38)
PubMed:
PMID:12213892
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.13884758T>C , CM000680.2:g.13884758T>C
GRCh38
NC_000018.9:g.13884757T>C , CM000680.1:g.13884757T>C
GRCh37
NC_000018.8:g.13874757T>C
NCBI36
NG_011819.1:g.35779A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000327606.4:c.761A>G
MANE Select
ENSP00000333821.2:p.Tyr254Cys
ENST00000327606.3:c.761A>G
ENSP00000333821.2:p.Tyr254Cys
NM_000529.2:c.761A>G
MANE Select
NP_000520.1:p.Tyr254Cys
NM_001291911.1:c.761A>G
NP_001278840.1:p.Tyr254Cys
XM_017025781.1:c.761A>G
XP_016881270.1:p.Tyr254Cys
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