Canonical Allele Identifier: CA2665493334

Gene: NBEAL2

Linked Data

• gnomAD v4: 3-47000390-A-ACCAGCAACCC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000391_47000400dup , CM000665.2:g.47000391_47000400dup	GRCh38
NC_000003.11:g.47041881_47041890dup , CM000665.1:g.47041881_47041890dup	GRCh37
NC_000003.10:g.47016885_47016894dup	NCBI36
NG_031914.1:g.25709_25718dup , LRG_568:g.25709_25718dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.4292_4301dup MANE Select	ENSP00000415034.2:p.Thr1437ProfsTer6
ENST00000651747.1:c.4190_4199dup	ENSP00000499216.1:p.Thr1403ProfsTer6
ENST00000416683.5:c.2155_2164dup
ENST00000450053.7:c.4292_4301dup	ENSP00000415034.2:p.Thr1437ProfsTer6
NM_015175.2:c.4292_4301dup , LRG_568t1:c.4292_4301dup	NP_055990.1:p.Thr1437ProfsTer6
XM_005264992.2:c.4190_4199dup	XP_005265049.1:p.Thr1403ProfsTer6
XM_005264993.2:c.764_773dup	XP_005265050.1:p.Thr261ProfsTer6
XM_006713072.2:c.4211_4220dup	XP_006713135.1:p.Thr1410ProfsTer6
XM_011533532.1:c.4271_4280dup	XP_011531834.1:p.Thr1430ProfsTer6
XM_011533533.1:c.4292_4301dup	XP_011531835.1:p.Thr1437ProfsTer6
XM_011533534.1:c.3923_3932dup	XP_011531836.1:p.Thr1314ProfsTer6
XM_011533535.1:c.3752_3761dup	XP_011531837.1:p.Thr1257ProfsTer6
XM_011533536.1:c.3638_3647dup	XP_011531838.1:p.Thr1219ProfsTer6
XM_011533537.1:c.3200_3209dup	XP_011531839.1:p.Thr1073ProfsTer6
XR_940397.1:n.4468_4477dup
XR_940398.1:n.4468_4477dup
NM_001365116.1:c.4190_4199dup	NP_001352045.1:p.Thr1403ProfsTer6
XM_006713072.3:c.4211_4220dup	XP_006713135.1:p.Thr1410ProfsTer6
XM_011533533.2:c.4292_4301dup	XP_011531835.1:p.Thr1437ProfsTer6
XM_017006010.1:c.4292_4301dup	XP_016861499.1:p.Thr1437ProfsTer6
XM_017006011.1:c.4271_4280dup	XP_016861500.1:p.Thr1430ProfsTer6
XM_017006012.1:c.4211_4220dup	XP_016861501.1:p.Thr1410ProfsTer6
XM_017006013.1:c.4292_4301dup	XP_016861502.1:p.Thr1437ProfsTer6
XM_017006014.1:c.4190_4199dup	XP_016861503.1:p.Thr1403ProfsTer6
XM_017006015.1:c.3923_3932dup	XP_016861504.1:p.Thr1314ProfsTer6
XM_017006016.1:c.3752_3761dup	XP_016861505.1:p.Thr1257ProfsTer6
XM_017006017.1:c.764_773dup	XP_016861506.1:p.Thr261ProfsTer6
XR_940397.2:n.4468_4477dup
NM_001365116.2:c.4190_4199dup	NP_001352045.1:p.Thr1403ProfsTer6
NM_015175.3:c.4292_4301dup MANE Select	NP_055990.1:p.Thr1437ProfsTer6