Canonical Allele Identifier: CA2665493218

Gene: NBEAL2

Linked Data

• ClinVar Variation Id: 2632340
• ClinVar RCV Id: RCV003406108
• gnomAD v4: 3-47000015-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000019del , CM000665.2:g.47000019del	GRCh38
NC_000003.11:g.47041509del , CM000665.1:g.47041509del	GRCh37
NC_000003.10:g.47016513del	NCBI36
NG_031914.1:g.25337del , LRG_568:g.25337del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.3920del MANE Select	ENSP00000415034.2:p.Pro1307GlnfsTer?
ENST00000651747.1:c.3818del	ENSP00000499216.1:p.Pro1273GlnfsTer?
ENST00000652744.1:n.257del
ENST00000416683.5:c.1960-177del
ENST00000450053.7:c.3920del	ENSP00000415034.2:p.Pro1307GlnfsTer?
NM_015175.2:c.3920del , LRG_568t1:c.3920del	NP_055990.1:p.Pro1307GlnfsTer?
XM_005264992.2:c.3818del	XP_005265049.1:p.Pro1273GlnfsTer?
XM_005264993.2:c.392del	XP_005265050.1:p.Pro131GlnfsTer?
XM_006713072.2:c.3839del	XP_006713135.1:p.Pro1280GlnfsTer?
XM_011533532.1:c.3899del	XP_011531834.1:p.Pro1300GlnfsTer?
XM_011533533.1:c.3920del	XP_011531835.1:p.Pro1307GlnfsTer?
XM_011533534.1:c.3551del	XP_011531836.1:p.Pro1184GlnfsTer?
XM_011533535.1:c.3380del	XP_011531837.1:p.Pro1127GlnfsTer?
XM_011533536.1:c.3266del	XP_011531838.1:p.Pro1089GlnfsTer?
XM_011533537.1:c.2828del	XP_011531839.1:p.Pro943GlnfsTer?
XR_940397.1:n.4096del
XR_940398.1:n.4096del
NM_001365116.1:c.3818del	NP_001352045.1:p.Pro1273GlnfsTer?
XM_006713072.3:c.3839del	XP_006713135.1:p.Pro1280GlnfsTer?
XM_011533533.2:c.3920del	XP_011531835.1:p.Pro1307GlnfsTer?
XM_017006010.1:c.3920del	XP_016861499.1:p.Pro1307GlnfsTer?
XM_017006011.1:c.3899del	XP_016861500.1:p.Pro1300GlnfsTer?
XM_017006012.1:c.3839del	XP_016861501.1:p.Pro1280GlnfsTer?
XM_017006013.1:c.3920del	XP_016861502.1:p.Pro1307GlnfsTer?
XM_017006014.1:c.3818del	XP_016861503.1:p.Pro1273GlnfsTer?
XM_017006015.1:c.3551del	XP_016861504.1:p.Pro1184GlnfsTer?
XM_017006016.1:c.3380del	XP_016861505.1:p.Pro1127GlnfsTer?
XM_017006017.1:c.392del	XP_016861506.1:p.Pro131GlnfsTer?
XR_940397.2:n.4096del
NM_001365116.2:c.3818del	NP_001352045.1:p.Pro1273GlnfsTer?
NM_015175.3:c.3920del MANE Select	NP_055990.1:p.Pro1307GlnfsTer?