Canonical Allele Identifier: CA366775982

Gene: KDELR2 DAGLB

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
NM_006854.4:c.485A>G (KDELR2) MANE Select	NP_006845.1:p.Tyr162Cys
ENST00000258739.9:c.485A>G (KDELR2) MANE Select	ENSP00000258739.4:p.Tyr162Cys
NM_001100603.1:c.352-3015A>G (KDELR2)	NP_001094073.1:n.352-3015A>G
NM_001100603.2:c.352-3015A>G (KDELR2)	NP_001094073.1:n.352-3015A>G
NM_006854.3:c.485A>G (KDELR2)	NP_006845.1: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