Canonical Allele Identifier: CA16094966
Gene: QPCT HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.37368382A>G
GRCh37 chr2:g.37595525A>G
gnomAD v2:
2:37595525 A / G
gnomAD v3:
2:37368382 A / G
gnomAD v4:
chr2-37368382-A-G
Joint Max Group AF 0.52208859 (EAS)
Genomes Max Group AF 0.52177241 (EAS)
Exomes Max Group AF 0.48991105 (EAS)
dbSNP:
3770748
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.37368382A>G , CM000664.2:g.37368382A>G GRCh38
NC_000002.11:g.37595525A>G , CM000664.1:g.37595525A>G GRCh37
NC_000002.10:g.37449029A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000338415.8:c.723+974A>G MANE Select ENSP00000344829.3:n.723+974A>G
ENST00000338415.7:c.723+974A>G ENSP00000344829.3:n.723+974A>G
ENST00000404976.5:c.576+974A>G ENSP00000385391.1:n.576+974A>G
ENST00000444022.1:c.-260A>G ENSP00000389227.1:n.-260A>G
ENST00000469098.1:n.286+974A>G
ENST00000480050.1:n.633+974A>G
NM_012413.3:c.723+974A>G NP_036545.1:n.723+974A>G
NM_012413.4:c.723+974A>G MANE Select NP_036545.1:n.723+974A>G
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