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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:
CA116120
Gene: MC2R
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3261
ClinVar RCV Id:
RCV000003417
dbSNP Id:
rs104894657
ExAC:
18:13885136 G / A
gnomAD v2:
18-13885136-G-A
gnomAD v3:
18-13885137-G-A
gnomAD v4:
18-13885137-G-A
MyVariant Identifiers:
chr18:g.13885136G>A (hg19)
chr18:g.13885137G>A (hg38)
PubMed:
PMID:18407210
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.13885137G>A , CM000680.2:g.13885137G>A
GRCh38
NC_000018.9:g.13885136G>A , CM000680.1:g.13885136G>A
GRCh37
NC_000018.8:g.13875136G>A
NCBI36
NG_011819.1:g.35400C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000327606.4:c.382C>T
MANE Select
ENSP00000333821.2:p.Arg128Cys
ENST00000327606.3:c.382C>T
ENSP00000333821.2:p.Arg128Cys
NM_000529.2:c.382C>T
MANE Select
NP_000520.1:p.Arg128Cys
NM_001291911.1:c.382C>T
NP_001278840.1:p.Arg128Cys
XM_017025781.1:c.382C>T
XP_016881270.1:p.Arg128Cys
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