Canonical Allele Identifier: CA847345379
Gene: DLGAP2 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.1296114A>C
gnomAD v3:
8:1296114 A / C
gnomAD v4:
chr8-1296114-A-C
Joint Max Group AF 0.00000803 (AFR)
Genomes Max Group AF 0.00000803 (AFR)
dbSNP:
10101376
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.1296114A>C , CM000670.2:g.1296114A>C GRCh38
NG_009409.2:g.563396A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000421627.7:c.103+37231A>C ENSP00000400258.3:n.103+37231A>C
ENST00000637795.2:c.106+37231A>C MANE Select ENSP00000489774.1:n.106+37231A>C
NR_111948.1:n.2969T>G
XM_011534761.1:c.-135+37231A>C XP_011533063.1:n.-135+37231A>C
XM_011534762.1:c.-135+37231A>C XP_011533064.1:n.-135+37231A>C
NM_001346810.1:c.106+37231A>C NP_001333739.1:n.106+37231A>C
NM_001346810.2:c.106+37231A>C MANE Select NP_001333739.1:n.106+37231A>C
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