Canonical Allele Identifier: CA543042211

Gene: NBEAL2

Linked Data

• dbSNP Id: rs1255670121
• gnomAD v2: 3-47041672-AC-A
• MyVariant Identifiers: chr3:g.47041673del (hg19) ; chr3:g.47000183del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000183del , CM000665.2:g.47000183del	GRCh38
NC_000003.11:g.47041673del , CM000665.1:g.47041673del	GRCh37
NC_000003.10:g.47016677del	NCBI36
NG_031914.1:g.25501del , LRG_568:g.25501del

Transcript Alleles

HGVS	Amino-acid change
ENST00000450053.8:c.4084del MANE Select	ENSP00000415034.2:p.Arg1362GlyfsTer4
ENST00000651747.1:c.3982del	ENSP00000499216.1:p.Arg1328GlyfsTer4
ENST00000652744.1:n.421del
ENST00000416683.5:c.1960-13del
ENST00000450053.7:c.4084del	ENSP00000415034.2:p.Arg1362GlyfsTer4
NM_015175.2:c.4084del , LRG_568t1:c.4084del	NP_055990.1:p.Arg1362GlyfsTer4
XM_005264992.2:c.3982del	XP_005265049.1:p.Arg1328GlyfsTer4
XM_005264993.2:c.556del	XP_005265050.1:p.Arg186GlyfsTer4
XM_006713072.2:c.4003del	XP_006713135.1:p.Arg1335GlyfsTer4
XM_011533532.1:c.4063del	XP_011531834.1:p.Arg1355GlyfsTer4
XM_011533533.1:c.4084del	XP_011531835.1:p.Arg1362GlyfsTer4
XM_011533534.1:c.3715del	XP_011531836.1:p.Arg1239GlyfsTer4
XM_011533535.1:c.3544del	XP_011531837.1:p.Arg1182GlyfsTer4
XM_011533536.1:c.3430del	XP_011531838.1:p.Arg1144GlyfsTer4
XM_011533537.1:c.2992del	XP_011531839.1:p.Arg998GlyfsTer4
XR_940397.1:n.4260del
XR_940398.1:n.4260del
NM_001365116.1:c.3982del	NP_001352045.1:p.Arg1328GlyfsTer4
XM_006713072.3:c.4003del	XP_006713135.1:p.Arg1335GlyfsTer4
XM_011533533.2:c.4084del	XP_011531835.1:p.Arg1362GlyfsTer4
XM_017006010.1:c.4084del	XP_016861499.1:p.Arg1362GlyfsTer4
XM_017006011.1:c.4063del	XP_016861500.1:p.Arg1355GlyfsTer4
XM_017006012.1:c.4003del	XP_016861501.1:p.Arg1335GlyfsTer4
XM_017006013.1:c.4084del	XP_016861502.1:p.Arg1362GlyfsTer4
XM_017006014.1:c.3982del	XP_016861503.1:p.Arg1328GlyfsTer4
XM_017006015.1:c.3715del	XP_016861504.1:p.Arg1239GlyfsTer4
XM_017006016.1:c.3544del	XP_016861505.1:p.Arg1182GlyfsTer4
XM_017006017.1:c.556del	XP_016861506.1:p.Arg186GlyfsTer4
XR_940397.2:n.4260del
NM_001365116.2:c.3982del	NP_001352045.1:p.Arg1328GlyfsTer4
NM_015175.3:c.4084del MANE Select	NP_055990.1:p.Arg1362GlyfsTer4