Canonical Allele Identifier: CA43684814
Gene: POMC HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.25161572C>T
GRCh37 chr2:g.25384441C>T
Revel Score:
ENST00000380794 0.389
ENST00000405623 0.389
ENST00000264708 0.389
ENST00000395826 (MANE Select) 0.389
ENST00000449220 0.389
gnomAD v2:
2:25384441 C / T
gnomAD v3:
2:25161572 C / T
gnomAD v4:
chr2-25161572-C-T
Joint Max Group AF 0.0000063 (NFE)
Exomes Max Group AF 0.0000067 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25161572C>T , CM000664.2:g.25161572C>T GRCh38
NC_000002.11:g.25384441C>T , CM000664.1:g.25384441C>T GRCh37
NC_000002.10:g.25237945C>T NCBI36
NG_008997.1:g.12119G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395826.7:c.313G>A MANE Select ENSP00000379170.2:p.Glu105Lys
ENST00000264708.7:c.313G>A ENSP00000264708.3:p.Glu105Lys
ENST00000380794.5:c.313G>A ENSP00000370171.1:p.Glu105Lys
ENST00000395826.6:c.313G>A ENSP00000379170.2:p.Glu105Lys
ENST00000405623.5:c.313G>A ENSP00000384092.1:p.Glu105Lys
ENST00000449220.1:c.313G>A ENSP00000387993.1:p.Glu105Lys
NM_000939.2:c.313G>A NP_000930.1:p.Glu105Lys
NM_001035256.1:c.313G>A NP_001030333.1:p.Glu105Lys
XM_011532917.1:c.313G>A XP_011531219.1:p.Glu105Lys
NM_000939.3:c.313G>A NP_000930.1:p.Glu105Lys
NM_001035256.2:c.313G>A NP_001030333.1:p.Glu105Lys
NM_001319204.1:c.313G>A NP_001306133.1:p.Glu105Lys
NM_001319205.1:c.313G>A NP_001306134.1:p.Glu105Lys
NM_000939.4:c.313G>A MANE Select NP_000930.1:p.Glu105Lys
NM_001319204.2:c.313G>A NP_001306133.1:p.Glu105Lys
NM_001319205.2:c.313G>A NP_001306134.1:p.Glu105Lys
NM_001035256.3:c.313G>A NP_001030333.1:p.Glu105Lys
Search 100 bp 5'
Search 100 bp 3'