Canonical Allele Identifier: CA116117
Gene: MC2R HGNC NCBI
MyVariant.info:
GRCh38 chr18:g.13884918G>A
GRCh37 chr18:g.13884917G>A
gnomAD v2:
18:13884917 G / A
gnomAD v4:
chr18-13884918-G-A
Joint Max Group AF 0.00000183 (NFE)
Exomes Max Group AF 0.00000194 (NFE)
ClinVar RCV:
RCV000003415
ClinVar Variation:
3259
dbSNP:
104894659
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884918G>A , CM000680.2:g.13884918G>A GRCh38
NC_000018.9:g.13884917G>A , CM000680.1:g.13884917G>A GRCh37
NC_000018.8:g.13874917G>A NCBI36
NG_011819.1:g.35619C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.601C>T MANE Select ENSP00000333821.2:p.Arg201Ter
ENST00000327606.3:c.601C>T ENSP00000333821.2:p.Arg201Ter
NM_000529.2:c.601C>T MANE Select NP_000520.1:p.Arg201Ter
NM_001291911.1:c.601C>T NP_001278840.1:p.Arg201Ter
XM_017025781.1:c.601C>T XP_016881270.1:p.Arg201Ter
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