Canonical Allele Identifier: CA366775931

Gene: KDELR2 DAGLB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.6466170G>A , CM000669.2:g.6466170G>A	GRCh38
NC_000007.13:g.6505801G>A , CM000669.1:g.6505801G>A	GRCh37
NC_000007.12:g.6472326G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_006854.4:c.505C>T (KDELR2) MANE Select	NP_006845.1:p.Arg169Cys
ENST00000258739.9:c.505C>T (KDELR2) MANE Select	ENSP00000258739.4:p.Arg169Cys
NM_001100603.1:c.352-2995C>T (KDELR2)	NP_001094073.1:n.352-2995C>T
NM_001100603.2:c.352-2995C>T (KDELR2)	NP_001094073.1:n.352-2995C>T
NM_006854.3:c.505C>T (KDELR2)	NP_006845.1:p.Arg169Cys
ENST00000258739.8:c.505C>T (KDELR2)	ENSP00000258739.4:p.Arg169Cys
ENST00000436575.5:c.-29+17797C>T (DAGLB)	ENSP00000404785.1:n.-29+17797C>T
ENST00000454368.2:n.965C>T (KDELR2)
ENST00000463747.1:n.224+17797C>T (KDELR2)
ENST00000490996.1:c.352-2995C>T (KDELR2)	ENSP00000420501.1:n.352-2995C>T