Canonical Allele Identifier: CA543042236

Gene: NBEAL2

Linked Data

• dbSNP Id: rs1559607189
• gnomAD v2: 3-47041850-CCCA-C
• gnomAD v4: 3-47000360-CCCA-C
• MyVariant Identifiers: chr3:g.47041851_47041853del (hg19) ; chr3:g.47000361_47000363del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000364_47000366del , CM000665.2:g.47000364_47000366del	GRCh38
NC_000003.11:g.47041854_47041856del , CM000665.1:g.47041854_47041856del	GRCh37
NC_000003.10:g.47016858_47016860del	NCBI36
NG_031914.1:g.25682_25684del , LRG_568:g.25682_25684del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.4265_4267del MANE Select	ENSP00000415034.2:p.Thr1422del
ENST00000651747.1:c.4163_4165del	ENSP00000499216.1:p.Thr1388del
ENST00000416683.5:c.2128_2130del
ENST00000450053.7:c.4265_4267del	ENSP00000415034.2:p.Thr1422del
NM_015175.2:c.4265_4267del , LRG_568t1:c.4265_4267del	NP_055990.1:p.Thr1422del
XM_005264992.2:c.4163_4165del	XP_005265049.1:p.Thr1388del
XM_005264993.2:c.737_739del	XP_005265050.1:p.Thr246del
XM_006713072.2:c.4184_4186del	XP_006713135.1:p.Thr1395del
XM_011533532.1:c.4244_4246del	XP_011531834.1:p.Thr1415del
XM_011533533.1:c.4265_4267del	XP_011531835.1:p.Thr1422del
XM_011533534.1:c.3896_3898del	XP_011531836.1:p.Thr1299del
XM_011533535.1:c.3725_3727del	XP_011531837.1:p.Thr1242del
XM_011533536.1:c.3611_3613del	XP_011531838.1:p.Thr1204del
XM_011533537.1:c.3173_3175del	XP_011531839.1:p.Thr1058del
XR_940397.1:n.4441_4443del
XR_940398.1:n.4441_4443del
NM_001365116.1:c.4163_4165del	NP_001352045.1:p.Thr1388del
XM_006713072.3:c.4184_4186del	XP_006713135.1:p.Thr1395del
XM_011533533.2:c.4265_4267del	XP_011531835.1:p.Thr1422del
XM_017006010.1:c.4265_4267del	XP_016861499.1:p.Thr1422del
XM_017006011.1:c.4244_4246del	XP_016861500.1:p.Thr1415del
XM_017006012.1:c.4184_4186del	XP_016861501.1:p.Thr1395del
XM_017006013.1:c.4265_4267del	XP_016861502.1:p.Thr1422del
XM_017006014.1:c.4163_4165del	XP_016861503.1:p.Thr1388del
XM_017006015.1:c.3896_3898del	XP_016861504.1:p.Thr1299del
XM_017006016.1:c.3725_3727del	XP_016861505.1:p.Thr1242del
XM_017006017.1:c.737_739del	XP_016861506.1:p.Thr246del
XR_940397.2:n.4441_4443del
NM_001365116.2:c.4163_4165del	NP_001352045.1:p.Thr1388del
NM_015175.3:c.4265_4267del MANE Select	NP_055990.1:p.Thr1422del