Canonical Allele Identifier: CA459028664

Gene: DLGAP2

Linked Data

• dbSNP Id: rs1800166081
• gnomAD v3: 8-1296110-T-G
• gnomAD v4: 8-1296110-T-G
• MyVariant Identifiers: chr8:g.1244370T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.1296110T>G , CM000670.2:g.1296110T>G	GRCh38
NC_000008.10:g.1244370T>G , CM000670.1:g.1244370T>G	GRCh37
NC_000008.9:g.1231777T>G	NCBI36
NG_009409.2:g.563392T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000421627.7:c.103+37227T>G	ENSP00000400258.3:n.103+37227T>G
ENST00000637795.2:c.106+37227T>G MANE Select	ENSP00000489774.1:n.106+37227T>G
NR_111948.1:n.2973A>C
XM_011534761.1:c.-135+37227T>G	XP_011533063.1:n.-135+37227T>G
XM_011534762.1:c.-135+37227T>G	XP_011533064.1:n.-135+37227T>G
NM_001346810.1:c.106+37227T>G	NP_001333739.1:n.106+37227T>G
NM_001346810.2:c.106+37227T>G MANE Select	NP_001333739.1:n.106+37227T>G