Canonical Allele Identifier: CA170278726
Gene: DLGAP2 HGNC NCBI

Linked Data

dbSNP Id: rs1041320842
gnomAD v2: 8-1244359-C-T
gnomAD v3: 8-1296099-C-T
gnomAD v4: 8-1296099-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.1296099C>T , CM000670.2:g.1296099C>T GRCh38
NC_000008.10:g.1244359C>T , CM000670.1:g.1244359C>T GRCh37
NC_000008.9:g.1231766C>T NCBI36
NG_009409.2:g.563381C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000421627.7:c.103+37216C>T ENSP00000400258.3:n.103+37216C>T
ENST00000637795.2:c.106+37216C>T MANE Select ENSP00000489774.1:n.106+37216C>T
NR_111948.1:n.2984G>A
XM_011534761.1:c.-135+37216C>T XP_011533063.1:n.-135+37216C>T
XM_011534762.1:c.-135+37216C>T XP_011533064.1:n.-135+37216C>T
NM_001346810.1:c.106+37216C>T NP_001333739.1:n.106+37216C>T
NM_001346810.2:c.106+37216C>T MANE Select NP_001333739.1:n.106+37216C>T