Canonical Allele Identifier: CA369948332
Community Standard Title: NM_001346810.2(DLGAP2):c.1176G>C (p.Lys392Asn)
Gene: DLGAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.1549629G>C , CM000670.2:g.1549629G>C GRCh38
NC_000008.10:g.1497795G>C , CM000670.1:g.1497795G>C GRCh37
NC_000008.9:g.1485202G>C NCBI36
NG_009409.1:g.53227G>C
NG_009409.2:g.816911G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001346810.2:c.1176G>C MANE Select NP_001333739.1:p.Lys392Asn
ENST00000637795.2:c.1176G>C MANE Select ENSP00000489774.1:p.Lys392Asn
NM_001277161.1:c.936G>C NP_001264090.1:p.Lys312Asn
NM_001346810.1:c.1176G>C NP_001333739.1:p.Lys392Asn
NM_004745.4:c.936G>C NP_004736.2:p.Lys312Asn
ENST00000421627.6:c.936G>C ENSP00000400258.2:p.Lys312Asn
ENST00000421627.7:c.1173G>C ENSP00000400258.3:p.Lys391Asn
ENST00000520901.5:c.936G>C ENSP00000430563.2:p.Lys312Asn
ENST00000612087.1:c.936G>C ENSP00000484215.1:p.Lys312Asn
XM_011534761.1:c.936G>C XP_011533063.1:p.Lys312Asn
XM_011534762.1:c.936G>C XP_011533064.1:p.Lys312Asn