Canonical Allele Identifier: CA2361193

Gene: NBEAL2

Linked Data

• dbSNP Id: rs750147064
• ExAC: 3:47041865 GA / G
• gnomAD v2: 3-47041865-GA-G
• gnomAD v4: 3-47000375-GA-G
• MyVariant Identifiers: chr3:g.47041866del (hg19) ; chr3:g.47000376del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000376del , CM000665.2:g.47000376del	GRCh38
NC_000003.11:g.47041866del , CM000665.1:g.47041866del	GRCh37
NC_000003.10:g.47016870del	NCBI36
NG_031914.1:g.25694del , LRG_568:g.25694del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.4277del MANE Select	ENSP00000415034.2:p.Asp1426ValfsTer28
ENST00000651747.1:c.4175del	ENSP00000499216.1:p.Asp1392ValfsTer28
ENST00000416683.5:c.2140del
ENST00000450053.7:c.4277del	ENSP00000415034.2:p.Asp1426ValfsTer28
NM_015175.2:c.4277del , LRG_568t1:c.4277del	NP_055990.1:p.Asp1426ValfsTer28
XM_005264992.2:c.4175del	XP_005265049.1:p.Asp1392ValfsTer28
XM_005264993.2:c.749del	XP_005265050.1:p.Asp250ValfsTer28
XM_006713072.2:c.4196del	XP_006713135.1:p.Asp1399ValfsTer28
XM_011533532.1:c.4256del	XP_011531834.1:p.Asp1419ValfsTer28
XM_011533533.1:c.4277del	XP_011531835.1:p.Asp1426ValfsTer28
XM_011533534.1:c.3908del	XP_011531836.1:p.Asp1303ValfsTer28
XM_011533535.1:c.3737del	XP_011531837.1:p.Asp1246ValfsTer28
XM_011533536.1:c.3623del	XP_011531838.1:p.Asp1208ValfsTer28
XM_011533537.1:c.3185del	XP_011531839.1:p.Asp1062ValfsTer28
XR_940397.1:n.4453del
XR_940398.1:n.4453del
NM_001365116.1:c.4175del	NP_001352045.1:p.Asp1392ValfsTer28
XM_006713072.3:c.4196del	XP_006713135.1:p.Asp1399ValfsTer28
XM_011533533.2:c.4277del	XP_011531835.1:p.Asp1426ValfsTer28
XM_017006010.1:c.4277del	XP_016861499.1:p.Asp1426ValfsTer28
XM_017006011.1:c.4256del	XP_016861500.1:p.Asp1419ValfsTer28
XM_017006012.1:c.4196del	XP_016861501.1:p.Asp1399ValfsTer28
XM_017006013.1:c.4277del	XP_016861502.1:p.Asp1426ValfsTer28
XM_017006014.1:c.4175del	XP_016861503.1:p.Asp1392ValfsTer28
XM_017006015.1:c.3908del	XP_016861504.1:p.Asp1303ValfsTer28
XM_017006016.1:c.3737del	XP_016861505.1:p.Asp1246ValfsTer28
XM_017006017.1:c.749del	XP_016861506.1:p.Asp250ValfsTer28
XR_940397.2:n.4453del
NM_001365116.2:c.4175del	NP_001352045.1:p.Asp1392ValfsTer28
NM_015175.3:c.4277del MANE Select	NP_055990.1:p.Asp1426ValfsTer28