Canonical Allele Identifier: CA366776692

Gene: KDELR2 DAGLB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.6466315C>T , CM000669.2:g.6466315C>T	GRCh38
NC_000007.13:g.6505946C>T , CM000669.1:g.6505946C>T	GRCh37
NC_000007.12:g.6472471C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_006854.4:c.360G>A (KDELR2) MANE Select	NP_006845.1:p.Trp120Ter
ENST00000258739.9:c.360G>A (KDELR2) MANE Select	ENSP00000258739.4:p.Trp120Ter
NM_001100603.1:c.352-3140G>A (KDELR2)	NP_001094073.1:n.352-3140G>A
NM_001100603.2:c.352-3140G>A (KDELR2)	NP_001094073.1:n.352-3140G>A
NM_006854.3:c.360G>A (KDELR2)	NP_006845.1:p.Trp120Ter
ENST00000258739.8:c.360G>A (KDELR2)	ENSP00000258739.4:p.Trp120Ter
ENST00000436575.5:c.-29+17652G>A (DAGLB)	ENSP00000404785.1:n.-29+17652G>A
ENST00000454368.2:n.820G>A (KDELR2)
ENST00000463747.1:n.224+17652G>A (KDELR2)
ENST00000490996.1:c.352-3140G>A (KDELR2)	ENSP00000420501.1:n.352-3140G>A