×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA8902472
Gene: MC2R
HGNC
NCBI
Linked Data
dbSNP Id:
rs765856804
ExAC:
18:13885063 G / A
gnomAD v2:
18-13885063-G-A
gnomAD v4:
18-13885064-G-A
MyVariant Identifiers:
chr18:g.13885063G>A (hg19)
chr18:g.13885064G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.13885064G>A , CM000680.2:g.13885064G>A
GRCh38
NC_000018.9:g.13885063G>A , CM000680.1:g.13885063G>A
GRCh37
NC_000018.8:g.13875063G>A
NCBI36
NG_011819.1:g.35473C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000327606.4:c.455C>T
MANE Select
ENSP00000333821.2:p.Thr152Met
ENST00000327606.3:c.455C>T
ENSP00000333821.2:p.Thr152Met
NM_000529.2:c.455C>T
MANE Select
NP_000520.1:p.Thr152Met
NM_001291911.1:c.455C>T
NP_001278840.1:p.Thr152Met
XM_017025781.1:c.455C>T
XP_016881270.1:p.Thr152Met
Search 100 bp 5'
Search 100 bp 3'