Canonical Allele Identifier: CA10641095
Gene: MC2R HGNC NCBI

Linked Data

ClinVar Variation Id: 326152
ClinVar RCV Id: RCV000396457
dbSNP Id: rs67239935
gnomAD v2: 18-13883575-TAC-T
gnomAD v3: 18-13883576-TAC-T
gnomAD v4: 18-13883576-TAC-T
MyVariant Identifiers: chr18:g.13883592_13883593del (hg19) chr18:g.13883576_13883577del (hg19) chr18:g.13883593_13883594del (hg38) chr18:g.13883577_13883578del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13883627_13883628del , CM000680.2:g.13883627_13883628del GRCh38
NC_000018.9:g.13883626_13883627del , CM000680.1:g.13883626_13883627del GRCh37
NC_000018.8:g.13873626_13873627del NCBI36
NG_011819.1:g.36959_36960del

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.*1047_*1048del MANE Select ENSP00000333821.2:n.*1047_*1048del
ENST00000327606.3:c.*1047_*1048del ENSP00000333821.2:n.*1047_*1048del
NM_000529.2:c.*1047_*1048del MANE Select NP_000520.1:n.*1047_*1048del
NM_001291911.1:c.*1047_*1048del NP_001278840.1:n.*1047_*1048del
XM_017025781.1:c.*1047_*1048del XP_016881270.1:n.*1047_*1048del
Search 100 bp 5'
Search 100 bp 3'