Canonical Allele Identifier: CA2665493271
Gene: NBEAL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.47000359dup , CM000665.2:g.47000359dup GRCh38
NC_000003.11:g.47041849dup , CM000665.1:g.47041849dup GRCh37
NC_000003.10:g.47016853dup NCBI36
NG_031914.1:g.25677dup , LRG_568:g.25677dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000450053.8:c.4260dup MANE Select ENSP00000415034.2:p.Pro1421AlafsTer4
ENST00000651747.1:c.4158dup ENSP00000499216.1:p.Pro1387AlafsTer4
ENST00000416683.5:c.2123dup
ENST00000450053.7:c.4260dup ENSP00000415034.2:p.Pro1421AlafsTer4
NM_015175.2:c.4260dup , LRG_568t1:c.4260dup NP_055990.1:p.Pro1421AlafsTer4
XM_005264992.2:c.4158dup XP_005265049.1:p.Pro1387AlafsTer4
XM_005264993.2:c.732dup XP_005265050.1:p.Pro245AlafsTer4
XM_006713072.2:c.4179dup XP_006713135.1:p.Pro1394AlafsTer4
XM_011533532.1:c.4239dup XP_011531834.1:p.Pro1414AlafsTer4
XM_011533533.1:c.4260dup XP_011531835.1:p.Pro1421AlafsTer4
XM_011533534.1:c.3891dup XP_011531836.1:p.Pro1298AlafsTer4
XM_011533535.1:c.3720dup XP_011531837.1:p.Pro1241AlafsTer4
XM_011533536.1:c.3606dup XP_011531838.1:p.Pro1203AlafsTer4
XM_011533537.1:c.3168dup XP_011531839.1:p.Pro1057AlafsTer4
XR_940397.1:n.4436dup
XR_940398.1:n.4436dup
NM_001365116.1:c.4158dup NP_001352045.1:p.Pro1387AlafsTer4
XM_006713072.3:c.4179dup XP_006713135.1:p.Pro1394AlafsTer4
XM_011533533.2:c.4260dup XP_011531835.1:p.Pro1421AlafsTer4
XM_017006010.1:c.4260dup XP_016861499.1:p.Pro1421AlafsTer4
XM_017006011.1:c.4239dup XP_016861500.1:p.Pro1414AlafsTer4
XM_017006012.1:c.4179dup XP_016861501.1:p.Pro1394AlafsTer4
XM_017006013.1:c.4260dup XP_016861502.1:p.Pro1421AlafsTer4
XM_017006014.1:c.4158dup XP_016861503.1:p.Pro1387AlafsTer4
XM_017006015.1:c.3891dup XP_016861504.1:p.Pro1298AlafsTer4
XM_017006016.1:c.3720dup XP_016861505.1:p.Pro1241AlafsTer4
XM_017006017.1:c.732dup XP_016861506.1:p.Pro245AlafsTer4
XR_940397.2:n.4436dup
NM_001365116.2:c.4158dup NP_001352045.1:p.Pro1387AlafsTer4
NM_015175.3:c.4260dup MANE Select NP_055990.1:p.Pro1421AlafsTer4