Canonical Allele Identifier: CA499227457
Gene: ADAP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.29283483G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30956465G>C , CM000679.2:g.30956465G>C GRCh38
NC_000017.10:g.29283483G>C , CM000679.1:g.29283483G>C GRCh37
NC_000017.9:g.26307609G>C NCBI36
NG_051975.1:g.39730G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000330889.8:c.1107G>C MANE Select ENSP00000329468.3:p.Arg369=
ENST00000330889.7:c.1107G>C ENSP00000329468.3:p.Arg369=
ENST00000470962.1:n.527G>C
ENST00000480980.1:n.541G>C
ENST00000580525.5:c.1125G>C ENSP00000464121.1:p.Arg375=
ENST00000584828.5:c.402+74G>C
ENST00000585130.5:c.*706G>C ENSP00000464120.1:n.*706G>C
NM_018404.2:c.1107G>C NP_060874.1:p.Arg369=
XM_005258008.2:c.1125G>C XP_005258065.1:p.Arg375=
XM_005258011.2:c.1062G>C XP_005258068.1:p.Arg354=
XM_006721973.2:c.1051+74G>C XP_006722036.1:n.1051+74G>C
XM_011524993.1:c.1122G>C XP_011523295.1:p.Arg374=
XM_011524994.1:c.1104G>C XP_011523296.1:p.Arg368=
NM_001346712.1:c.1125G>C NP_001333641.1:p.Arg375=
NM_001346714.1:c.1104G>C NP_001333643.1:p.Arg368=
NM_001346716.1:c.1033+74G>C NP_001333645.1:n.1033+74G>C
NR_144488.1:n.1306G>C
XM_024450831.1:c.1107G>C XP_024306599.1:p.Arg369=
XM_024450832.1:c.1122G>C XP_024306600.1:p.Arg374=
XM_024450833.1:c.1062G>C XP_024306601.1:p.Arg354=
XM_024450834.1:c.1051+74G>C XP_024306602.1:n.1051+74G>C
XM_024450835.1:c.741G>C XP_024306603.1:p.Arg247=
NM_018404.3:c.1107G>C MANE Select NP_060874.1:p.Arg369=
NM_001346712.2:c.1125G>C NP_001333641.1:p.Arg375=
NM_001346714.2:c.1104G>C NP_001333643.1:p.Arg368=
NM_001346716.2:c.1033+74G>C NP_001333645.1:n.1033+74G>C
NR_144488.2:n.1097G>C