Canonical Allele Identifier: CA2841994378

Gene: NBEAL2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000180dup , CM000665.2:g.47000180dup	GRCh38
NC_000003.11:g.47041670dup , CM000665.1:g.47041670dup	GRCh37
NC_000003.10:g.47016674dup	NCBI36
NG_031914.1:g.25498dup , LRG_568:g.25498dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.4081dup MANE Select	ENSP00000415034.2:p.Glu1361GlyfsTer4
ENST00000651747.1:c.3979dup	ENSP00000499216.1:p.Glu1327GlyfsTer4
ENST00000652744.1:n.418dup
ENST00000416683.5:c.1960-16dup
ENST00000450053.7:c.4081dup	ENSP00000415034.2:p.Glu1361GlyfsTer4
NM_015175.2:c.4081dup , LRG_568t1:c.4081dup	NP_055990.1:p.Glu1361GlyfsTer4
XM_005264992.2:c.3979dup	XP_005265049.1:p.Glu1327GlyfsTer4
XM_005264993.2:c.553dup	XP_005265050.1:p.Glu185GlyfsTer4
XM_006713072.2:c.4000dup	XP_006713135.1:p.Glu1334GlyfsTer4
XM_011533532.1:c.4060dup	XP_011531834.1:p.Glu1354GlyfsTer4
XM_011533533.1:c.4081dup	XP_011531835.1:p.Glu1361GlyfsTer4
XM_011533534.1:c.3712dup	XP_011531836.1:p.Glu1238GlyfsTer4
XM_011533535.1:c.3541dup	XP_011531837.1:p.Glu1181GlyfsTer4
XM_011533536.1:c.3427dup	XP_011531838.1:p.Glu1143GlyfsTer4
XM_011533537.1:c.2989dup	XP_011531839.1:p.Glu997GlyfsTer4
XR_940397.1:n.4257dup
XR_940398.1:n.4257dup
NM_001365116.1:c.3979dup	NP_001352045.1:p.Glu1327GlyfsTer4
XM_006713072.3:c.4000dup	XP_006713135.1:p.Glu1334GlyfsTer4
XM_011533533.2:c.4081dup	XP_011531835.1:p.Glu1361GlyfsTer4
XM_017006010.1:c.4081dup	XP_016861499.1:p.Glu1361GlyfsTer4
XM_017006011.1:c.4060dup	XP_016861500.1:p.Glu1354GlyfsTer4
XM_017006012.1:c.4000dup	XP_016861501.1:p.Glu1334GlyfsTer4
XM_017006013.1:c.4081dup	XP_016861502.1:p.Glu1361GlyfsTer4
XM_017006014.1:c.3979dup	XP_016861503.1:p.Glu1327GlyfsTer4
XM_017006015.1:c.3712dup	XP_016861504.1:p.Glu1238GlyfsTer4
XM_017006016.1:c.3541dup	XP_016861505.1:p.Glu1181GlyfsTer4
XM_017006017.1:c.553dup	XP_016861506.1:p.Glu185GlyfsTer4
XR_940397.2:n.4257dup
NM_001365116.2:c.3979dup	NP_001352045.1:p.Glu1327GlyfsTer4
NM_015175.3:c.4081dup MANE Select	NP_055990.1:p.Glu1361GlyfsTer4