Canonical Allele Identifier: CA366775982
Gene: KDELR2 HGNC NCBI
DAGLB HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.6466190T>C
GRCh37 chr7:g.6505821T>C
Revel Score:
ENST00000258739 (MANE Select) 0.576
gnomAD v4:
chr7-6466190-T-C
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar Allele:
1108754
ClinVar RCV:
RCV001449583
ClinVar Variation:
1119977
dbSNP:
1785499146
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.6466190T>C , CM000669.2:g.6466190T>C GRCh38
NC_000007.13:g.6505821T>C , CM000669.1:g.6505821T>C GRCh37
NC_000007.12:g.6472346T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000258739.9:c.485A>G (KDELR2) MANE Select ENSP00000258739.4:p.Tyr162Cys
ENST00000258739.8:c.485A>G (KDELR2) ENSP00000258739.4:p.Tyr162Cys
ENST00000436575.5:c.-29+17777A>G (DAGLB) ENSP00000404785.1:n.-29+17777A>G
ENST00000454368.2:n.945A>G (KDELR2)
ENST00000463747.1:n.224+17777A>G (KDELR2)
ENST00000490996.1:c.352-3015A>G (KDELR2) ENSP00000420501.1:n.352-3015A>G
NM_001100603.1:c.352-3015A>G (KDELR2) NP_001094073.1:n.352-3015A>G
NM_006854.3:c.485A>G (KDELR2) NP_006845.1:p.Tyr162Cys
NM_006854.4:c.485A>G (KDELR2) MANE Select NP_006845.1:p.Tyr162Cys
NM_001100603.2:c.352-3015A>G (KDELR2) NP_001094073.1:n.352-3015A>G
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