Canonical Allele Identifier: CA170278593

Gene: DLGAP2

Linked Data

• dbSNP Id: rs528719203
• gnomAD v3: 8-1296037-C-T
• gnomAD v4: 8-1296037-C-T
• MyVariant Identifiers: chr8:g.1244297C>T (hg19) ; chr8:g.1296037C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.1296037C>T , CM000670.2:g.1296037C>T	GRCh38
NC_000008.10:g.1244297C>T , CM000670.1:g.1244297C>T	GRCh37
NC_000008.9:g.1231704C>T	NCBI36
NG_009409.2:g.563319C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000421627.7:c.103+37154C>T	ENSP00000400258.3:n.103+37154C>T
ENST00000637795.2:c.106+37154C>T MANE Select	ENSP00000489774.1:n.106+37154C>T
NR_111948.1:n.3046G>A
XM_011534761.1:c.-135+37154C>T	XP_011533063.1:n.-135+37154C>T
XM_011534762.1:c.-135+37154C>T	XP_011533064.1:n.-135+37154C>T
NM_001346810.1:c.106+37154C>T	NP_001333739.1:n.106+37154C>T
NM_001346810.2:c.106+37154C>T MANE Select	NP_001333739.1:n.106+37154C>T