Canonical Allele Identifier: CA116123
Gene: MC2R HGNC NCBI
MyVariant.info:
GRCh38 chr18:g.13885110G>A
GRCh37 chr18:g.13885109G>A
Revel Score:
ENST00000327606 (MANE Select) 0.290
ENST00000399821 0.290
gnomAD v2:
18:13885109 G / A
gnomAD v3:
18:13885110 G / A
gnomAD v4:
chr18-13885110-G-A
Joint Max Group AF 0.00017988 (AMR)
Genomes Max Group AF 0.00000798 (AFR)
Exomes Max Group AF 0.00022384 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13885110G>A , CM000680.2:g.13885110G>A GRCh38
NC_000018.9:g.13885109G>A , CM000680.1:g.13885109G>A GRCh37
NC_000018.8:g.13875109G>A NCBI36
NG_011819.1:g.35427C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.409C>T MANE Select ENSP00000333821.2:p.Arg137Trp
ENST00000327606.3:c.409C>T ENSP00000333821.2:p.Arg137Trp
NM_000529.2:c.409C>T MANE Select NP_000520.1:p.Arg137Trp
NM_001291911.1:c.409C>T NP_001278840.1:p.Arg137Trp
XM_017025781.1:c.409C>T XP_016881270.1:p.Arg137Trp
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