Canonical Allele Identifier: CA499227617
Gene: ADAP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.29283508G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30956490G>C , CM000679.2:g.30956490G>C GRCh38
NC_000017.10:g.29283508G>C , CM000679.1:g.29283508G>C GRCh37
NC_000017.9:g.26307634G>C NCBI36
NG_051975.1:g.39755G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000330889.8:c.1111+21G>C MANE Select ENSP00000329468.3:n.1111+21G>C
ENST00000330889.7:c.1111+21G>C ENSP00000329468.3:n.1111+21G>C
ENST00000470962.1:n.531+21G>C
ENST00000480980.1:n.566G>C
ENST00000580525.5:c.1129+21G>C ENSP00000464121.1:n.1129+21G>C
ENST00000584828.5:c.402+99G>C
ENST00000585130.5:c.*710+21G>C ENSP00000464120.1:n.*710+21G>C
NM_018404.2:c.1111+21G>C NP_060874.1:n.1111+21G>C
XM_005258008.2:c.1129+21G>C XP_005258065.1:n.1129+21G>C
XM_005258011.2:c.1066+21G>C XP_005258068.1:n.1066+21G>C
XM_006721973.2:c.1051+99G>C XP_006722036.1:n.1051+99G>C
XM_011524993.1:c.1126+21G>C XP_011523295.1:n.1126+21G>C
XM_011524994.1:c.1108+21G>C XP_011523296.1:n.1108+21G>C
NM_001346712.1:c.1129+21G>C NP_001333641.1:n.1129+21G>C
NM_001346714.1:c.1108+21G>C NP_001333643.1:n.1108+21G>C
NM_001346716.1:c.1033+99G>C NP_001333645.1:n.1033+99G>C
NR_144488.1:n.1310+21G>C
XM_024450831.1:c.1132G>C XP_024306599.1:p.Gly378Arg
XM_024450832.1:c.1126+21G>C XP_024306600.1:n.1126+21G>C
XM_024450833.1:c.1066+21G>C XP_024306601.1:n.1066+21G>C
XM_024450834.1:c.1051+99G>C XP_024306602.1:n.1051+99G>C
XM_024450835.1:c.745+21G>C XP_024306603.1:n.745+21G>C
NM_018404.3:c.1111+21G>C MANE Select NP_060874.1:n.1111+21G>C
NM_001346712.2:c.1129+21G>C NP_001333641.1:n.1129+21G>C
NM_001346714.2:c.1108+21G>C NP_001333643.1:n.1108+21G>C
NM_001346716.2:c.1033+99G>C NP_001333645.1:n.1033+99G>C
NR_144488.2:n.1101+21G>C