Canonical Allele Identifier: CA366776369

Gene: KDELR2 DAGLB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.6466277G>A , CM000669.2:g.6466277G>A	GRCh38
NC_000007.13:g.6505908G>A , CM000669.1:g.6505908G>A	GRCh37
NC_000007.12:g.6472433G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_006854.4:c.398C>T (KDELR2) MANE Select	NP_006845.1:p.Pro133Leu
ENST00000258739.9:c.398C>T (KDELR2) MANE Select	ENSP00000258739.4:p.Pro133Leu
NM_001100603.1:c.352-3102C>T (KDELR2)	NP_001094073.1:n.352-3102C>T
NM_001100603.2:c.352-3102C>T (KDELR2)	NP_001094073.1:n.352-3102C>T
NM_006854.3:c.398C>T (KDELR2)	NP_006845.1:p.Pro133Leu
ENST00000258739.8:c.398C>T (KDELR2)	ENSP00000258739.4:p.Pro133Leu
ENST00000436575.5:c.-29+17690C>T (DAGLB)	ENSP00000404785.1:n.-29+17690C>T
ENST00000454368.2:n.858C>T (KDELR2)
ENST00000463747.1:n.224+17690C>T (KDELR2)
ENST00000490996.1:c.352-3102C>T (KDELR2)	ENSP00000420501.1:n.352-3102C>T