Canonical Allele Identifier: CA116120
Gene: MC2R HGNC NCBI
COSMIC:
COSM5771237 (not active)
MyVariant.info:
GRCh38 chr18:g.13885137G>A
GRCh37 chr18:g.13885136G>A
Revel Score:
ENST00000327606 (MANE Select) 0.930
ENST00000399821 0.930
gnomAD v2:
18:13885136 G / A
gnomAD v3:
18:13885137 G / A
gnomAD v4:
chr18-13885137-G-A
Joint Max Group AF 0.00001107 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00001012 (NFE)
ClinVar RCV:
RCV000003417
ClinVar Variation:
3261
dbSNP:
104894657
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13885137G>A , CM000680.2:g.13885137G>A GRCh38
NC_000018.9:g.13885136G>A , CM000680.1:g.13885136G>A GRCh37
NC_000018.8:g.13875136G>A NCBI36
NG_011819.1:g.35400C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.382C>T MANE Select ENSP00000333821.2:p.Arg128Cys
ENST00000327606.3:c.382C>T ENSP00000333821.2:p.Arg128Cys
NM_000529.2:c.382C>T MANE Select NP_000520.1:p.Arg128Cys
NM_001291911.1:c.382C>T NP_001278840.1:p.Arg128Cys
XM_017025781.1:c.382C>T XP_016881270.1:p.Arg128Cys
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