Canonical Allele Identifier: CA499227560
Gene: ADAP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.29283500A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30956482A>T , CM000679.2:g.30956482A>T GRCh38
NC_000017.10:g.29283500A>T , CM000679.1:g.29283500A>T GRCh37
NC_000017.9:g.26307626A>T NCBI36
NG_051975.1:g.39747A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000330889.8:c.1111+13A>T MANE Select ENSP00000329468.3:n.1111+13A>T
ENST00000330889.7:c.1111+13A>T ENSP00000329468.3:n.1111+13A>T
ENST00000470962.1:n.531+13A>T
ENST00000480980.1:n.558A>T
ENST00000580525.5:c.1129+13A>T ENSP00000464121.1:n.1129+13A>T
ENST00000584828.5:c.402+91A>T
ENST00000585130.5:c.*710+13A>T ENSP00000464120.1:n.*710+13A>T
NM_018404.2:c.1111+13A>T NP_060874.1:n.1111+13A>T
XM_005258008.2:c.1129+13A>T XP_005258065.1:n.1129+13A>T
XM_005258011.2:c.1066+13A>T XP_005258068.1:n.1066+13A>T
XM_006721973.2:c.1051+91A>T XP_006722036.1:n.1051+91A>T
XM_011524993.1:c.1126+13A>T XP_011523295.1:n.1126+13A>T
XM_011524994.1:c.1108+13A>T XP_011523296.1:n.1108+13A>T
NM_001346712.1:c.1129+13A>T NP_001333641.1:n.1129+13A>T
NM_001346714.1:c.1108+13A>T NP_001333643.1:n.1108+13A>T
NM_001346716.1:c.1033+91A>T NP_001333645.1:n.1033+91A>T
NR_144488.1:n.1310+13A>T
XM_024450831.1:c.1124A>T XP_024306599.1:p.Glu375Val
XM_024450832.1:c.1126+13A>T XP_024306600.1:n.1126+13A>T
XM_024450833.1:c.1066+13A>T XP_024306601.1:n.1066+13A>T
XM_024450834.1:c.1051+91A>T XP_024306602.1:n.1051+91A>T
XM_024450835.1:c.745+13A>T XP_024306603.1:n.745+13A>T
NM_018404.3:c.1111+13A>T MANE Select NP_060874.1:n.1111+13A>T
NM_001346712.2:c.1129+13A>T NP_001333641.1:n.1129+13A>T
NM_001346714.2:c.1108+13A>T NP_001333643.1:n.1108+13A>T
NM_001346716.2:c.1033+91A>T NP_001333645.1:n.1033+91A>T
NR_144488.2:n.1101+13A>T