Canonical Allele Identifier: CA366781726

Gene: KDELR2 DAGLB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.6484024G>C , CM000669.2:g.6484024G>C	GRCh38
NC_000007.13:g.6523655G>C , CM000669.1:g.6523655G>C	GRCh37
NC_000007.12:g.6490180G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_006854.4:c.34C>G (KDELR2) MANE Select	NP_006845.1:p.His12Asp
ENST00000258739.9:c.34C>G (KDELR2) MANE Select	ENSP00000258739.4:p.His12Asp
NM_001100603.1:c.34C>G (KDELR2)	NP_001094073.1:p.His12Asp
NM_001100603.2:c.34C>G (KDELR2)	NP_001094073.1:p.His12Asp
NM_006854.3:c.34C>G (KDELR2)	NP_006845.1:p.His12Asp
ENST00000258739.8:c.34C>G (KDELR2)	ENSP00000258739.4:p.His12Asp
ENST00000382267.3:c.34C>G (KDELR2)	ENSP00000371702.3:p.His12Asp
ENST00000436575.5:c.-86C>G (DAGLB)	ENSP00000404785.1:n.-86C>G
ENST00000462052.1:n.120C>G (KDELR2)
ENST00000463747.1:n.167C>G (KDELR2)
ENST00000490996.1:c.34C>G (KDELR2)	ENSP00000420501.1:p.His12Asp