Canonical Allele Identifier: CA8902374
Gene: MC2R HGNC NCBI

Linked Data

dbSNP Id: rs756787566
ExAC: 18:13884613 GA / G
gnomAD v2: 18-13884613-GA-G
gnomAD v3: 18-13884614-GA-G
gnomAD v4: 18-13884614-GA-G
MyVariant Identifiers: chr18:g.13884614del (hg19) chr18:g.13884615del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884615del , CM000680.2:g.13884615del GRCh38
NC_000018.9:g.13884614del , CM000680.1:g.13884614del GRCh37
NC_000018.8:g.13874614del NCBI36
NG_011819.1:g.35922del

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.*10del MANE Select ENSP00000333821.2:n.*10del
ENST00000327606.3:c.*10del ENSP00000333821.2:n.*10del
NM_000529.2:c.*10del MANE Select NP_000520.1:n.*10del
NM_001291911.1:c.*10del NP_001278840.1:n.*10del
XM_017025781.1:c.*10del XP_016881270.1:n.*10del
Search 100 bp 5'
Search 100 bp 3'