Canonical Allele Identifier: CA8902362
Gene: MC2R HGNC NCBI

Linked Data

dbSNP Id: rs748256622
ExAC: 18:13884577 CT / C
gnomAD v2: 18-13884577-CT-C
gnomAD v3: 18-13884578-CT-C
gnomAD v4: 18-13884578-CT-C
MyVariant Identifiers: chr18:g.13884578del (hg19) chr18:g.13884579del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884580del , CM000680.2:g.13884580del GRCh38
NC_000018.9:g.13884579del , CM000680.1:g.13884579del GRCh37
NC_000018.8:g.13874579del NCBI36
NG_011819.1:g.35958del

Transcript Alleles

HGVS Amino-acid change
ENST00000327606.4:c.*46del MANE Select ENSP00000333821.2:n.*46del
ENST00000327606.3:c.*46del ENSP00000333821.2:n.*46del
NM_000529.2:c.*46del MANE Select NP_000520.1:n.*46del
NM_001291911.1:c.*46del NP_001278840.1:n.*46del
XM_017025781.1:c.*46del XP_016881270.1:n.*46del
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