Canonical Allele Identifier: CA2573051427
Gene: ABL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1326906
ClinVar RCV Id: RCV001787291
dbSNP Id: rs2102613028

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179117391_179117392insA , CM000663.2:g.179117391_179117392insA GRCh38
NC_000001.10:g.179086526_179086527insA , CM000663.1:g.179086526_179086527insA GRCh37
NC_000001.9:g.177353149_177353150insA NCBI36
NG_028242.1:g.117293_117294insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000344730.8:c.1303_1304insT ENSP00000339209.3:p.Lys435IlefsTer16
ENST00000392043.4:c.1285_1286insT ENSP00000375897.3:p.Lys429IlefsTer16
ENST00000502732.6:c.1348_1349insT MANE Select ENSP00000427562.1:p.Lys450IlefsTer16
ENST00000662960.1:n.1023_1024insT
ENST00000668691.1:n.1572_1573insT
ENST00000344730.7:c.1303_1304insT ENSP00000339209.3:p.Lys435IlefsTer16
ENST00000367623.8:c.1285_1286insT ENSP00000356595.4:p.Lys429IlefsTer16
ENST00000392043.3:c.1285_1286insT ENSP00000375897.3:p.Lys429IlefsTer16
ENST00000502732.5:c.1348_1349insT ENSP00000427562.1:p.Lys450IlefsTer16
ENST00000504324.1:n.1335_1336insT
ENST00000504405.5:c.1240_1241insT ENSP00000426831.1:p.Lys414IlefsTer16
ENST00000507173.5:c.1285_1286insT ENSP00000423413.1:p.Lys429IlefsTer16
ENST00000509520.5:n.1265_1266insT
ENST00000511413.5:c.1348_1349insT ENSP00000424697.1:p.Lys450IlefsTer16
ENST00000512653.5:c.1303_1304insT ENSP00000423578.1:p.Lys435IlefsTer16
NM_001136000.2:c.1303_1304insT NP_001129472.1:p.Lys435IlefsTer16
NM_001136001.1:c.1285_1286insT NP_001129473.1:p.Lys429IlefsTer16
NM_001168236.1:c.1285_1286insT NP_001161708.1:p.Lys429IlefsTer16
NM_001168237.1:c.1348_1349insT NP_001161709.1:p.Lys450IlefsTer16
NM_001168238.1:c.1285_1286insT NP_001161710.1:p.Lys429IlefsTer16
NM_001168239.1:c.1240_1241insT NP_001161711.1:p.Lys414IlefsTer16
NM_005158.4:c.1303_1304insT NP_005149.4:p.Lys435IlefsTer16
NM_007314.3:c.1348_1349insT NP_009298.1:p.Lys450IlefsTer16
XM_005245088.1:c.1240_1241insT XP_005245145.1:p.Lys414IlefsTer16
XR_921764.1:n.1604_1605insT
XR_921765.1:n.1581_1582insT
XM_005245088.2:c.1240_1241insT XP_005245145.1:p.Lys414IlefsTer16
XM_017001035.1:c.1348_1349insT XP_016856524.1:p.Lys450IlefsTer16
XR_921764.3:n.1632_1633insT
NM_007314.4:c.1348_1349insT MANE Select NP_009298.1:p.Lys450IlefsTer16
NM_001136000.3:c.1303_1304insT NP_001129472.1:p.Lys435IlefsTer16
NM_001168236.2:c.1285_1286insT NP_001161708.1:p.Lys429IlefsTer16
NM_001168237.2:c.1348_1349insT NP_001161709.1:p.Lys450IlefsTer16
NM_001168238.2:c.1285_1286insT NP_001161710.1:p.Lys429IlefsTer16
NM_001168239.2:c.1240_1241insT NP_001161711.1:p.Lys414IlefsTer16
NM_005158.5:c.1303_1304insT NP_005149.4:p.Lys435IlefsTer16
NM_001136001.2:c.1285_1286insT NP_001129473.1:p.Lys429IlefsTer16