Canonical Allele Identifier: CA433598359

Gene: NBEAL2

Linked Data

• COSMIC: COSM267000
• MyVariant Identifiers: chr3:g.47041622del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000135del , CM000665.2:g.47000135del	GRCh38
NC_000003.11:g.47041625del , CM000665.1:g.47041625del	GRCh37
NC_000003.10:g.47016629del	NCBI36
NG_031914.1:g.25453del , LRG_568:g.25453del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.4036del MANE Select	ENSP00000415034.2:p.Tyr1346ThrfsTer20
ENST00000651747.1:c.3934del	ENSP00000499216.1:p.Tyr1312ThrfsTer20
ENST00000652744.1:n.373del
ENST00000416683.5:c.1960-61del
ENST00000450053.7:c.4036del	ENSP00000415034.2:p.Tyr1346ThrfsTer20
NM_015175.2:c.4036del , LRG_568t1:c.4036del	NP_055990.1:p.Tyr1346ThrfsTer20
XM_005264992.2:c.3934del	XP_005265049.1:p.Tyr1312ThrfsTer20
XM_005264993.2:c.508del	XP_005265050.1:p.Tyr170ThrfsTer20
XM_006713072.2:c.3955del	XP_006713135.1:p.Tyr1319ThrfsTer20
XM_011533532.1:c.4015del	XP_011531834.1:p.Tyr1339ThrfsTer20
XM_011533533.1:c.4036del	XP_011531835.1:p.Tyr1346ThrfsTer20
XM_011533534.1:c.3667del	XP_011531836.1:p.Tyr1223ThrfsTer20
XM_011533535.1:c.3496del	XP_011531837.1:p.Tyr1166ThrfsTer20
XM_011533536.1:c.3382del	XP_011531838.1:p.Tyr1128ThrfsTer20
XM_011533537.1:c.2944del	XP_011531839.1:p.Tyr982ThrfsTer20
XR_940397.1:n.4212del
XR_940398.1:n.4212del
NM_001365116.1:c.3934del	NP_001352045.1:p.Tyr1312ThrfsTer20
XM_006713072.3:c.3955del	XP_006713135.1:p.Tyr1319ThrfsTer20
XM_011533533.2:c.4036del	XP_011531835.1:p.Tyr1346ThrfsTer20
XM_017006010.1:c.4036del	XP_016861499.1:p.Tyr1346ThrfsTer20
XM_017006011.1:c.4015del	XP_016861500.1:p.Tyr1339ThrfsTer20
XM_017006012.1:c.3955del	XP_016861501.1:p.Tyr1319ThrfsTer20
XM_017006013.1:c.4036del	XP_016861502.1:p.Tyr1346ThrfsTer20
XM_017006014.1:c.3934del	XP_016861503.1:p.Tyr1312ThrfsTer20
XM_017006015.1:c.3667del	XP_016861504.1:p.Tyr1223ThrfsTer20
XM_017006016.1:c.3496del	XP_016861505.1:p.Tyr1166ThrfsTer20
XM_017006017.1:c.508del	XP_016861506.1:p.Tyr170ThrfsTer20
XR_940397.2:n.4212del
NM_001365116.2:c.3934del	NP_001352045.1:p.Tyr1312ThrfsTer20
NM_015175.3:c.4036del MANE Select	NP_055990.1:p.Tyr1346ThrfsTer20