Canonical Allele Identifier: CA499227289
Gene: ADAP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.29283447G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30956429G>T , CM000679.2:g.30956429G>T GRCh38
NC_000017.10:g.29283447G>T , CM000679.1:g.29283447G>T GRCh37
NC_000017.9:g.26307573G>T NCBI36
NG_051975.1:g.39694G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000330889.8:c.1071G>T MANE Select ENSP00000329468.3:p.Arg357=
ENST00000330889.7:c.1071G>T ENSP00000329468.3:p.Arg357=
ENST00000470962.1:n.491G>T
ENST00000480980.1:n.505G>T
ENST00000580525.5:c.1089G>T ENSP00000464121.1:p.Arg363=
ENST00000581285.5:c.987G>T ENSP00000464155.1:p.Arg329=
ENST00000584828.5:c.402+38G>T
ENST00000585130.5:c.*670G>T ENSP00000464120.1:n.*670G>T
NM_018404.2:c.1071G>T NP_060874.1:p.Arg357=
XM_005258008.2:c.1089G>T XP_005258065.1:p.Arg363=
XM_005258011.2:c.1026G>T XP_005258068.1:p.Arg342=
XM_006721973.2:c.1051+38G>T XP_006722036.1:n.1051+38G>T
XM_011524993.1:c.1086G>T XP_011523295.1:p.Arg362=
XM_011524994.1:c.1068G>T XP_011523296.1:p.Arg356=
NM_001346712.1:c.1089G>T NP_001333641.1:p.Arg363=
NM_001346714.1:c.1068G>T NP_001333643.1:p.Arg356=
NM_001346716.1:c.1033+38G>T NP_001333645.1:n.1033+38G>T
NR_144488.1:n.1270G>T
XM_024450831.1:c.1071G>T XP_024306599.1:p.Arg357=
XM_024450832.1:c.1086G>T XP_024306600.1:p.Arg362=
XM_024450833.1:c.1026G>T XP_024306601.1:p.Arg342=
XM_024450834.1:c.1051+38G>T XP_024306602.1:n.1051+38G>T
XM_024450835.1:c.705G>T XP_024306603.1:p.Arg235=
NM_018404.3:c.1071G>T MANE Select NP_060874.1:p.Arg357=
NM_001346712.2:c.1089G>T NP_001333641.1:p.Arg363=
NM_001346714.2:c.1068G>T NP_001333643.1:p.Arg356=
NM_001346716.2:c.1033+38G>T NP_001333645.1:n.1033+38G>T
NR_144488.2:n.1061G>T