Canonical Allele Identifier: CA352525943

Gene: NBEAL2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47002994G>A , CM000665.2:g.47002994G>A	GRCh38
NC_000003.11:g.47044484G>A , CM000665.1:g.47044484G>A	GRCh37
NC_000003.10:g.47019488G>A	NCBI36
NG_031914.1:g.28312G>A , LRG_568:g.28312G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015175.3:c.5497G>A MANE Select	NP_055990.1:p.Glu1833Lys
ENST00000450053.8:c.5497G>A MANE Select	ENSP00000415034.2:p.Glu1833Lys
NM_001365116.1:c.5395G>A	NP_001352045.1:p.Glu1799Lys
NM_001365116.2:c.5395G>A	NP_001352045.1:p.Glu1799Lys
NM_015175.2:c.5497G>A , LRG_568t1:c.5497G>A	NP_055990.1:p.Glu1833Lys
ENST00000416683.5:c.3360G>A
ENST00000443829.5:c.602G>A
ENST00000450053.7:c.5497G>A	ENSP00000415034.2:p.Glu1833Lys
ENST00000651747.1:c.5395G>A	ENSP00000499216.1:p.Glu1799Lys
XM_005264992.2:c.5395G>A	XP_005265049.1:p.Glu1799Lys
XM_005264993.2:c.1969G>A	XP_005265050.1:p.Glu657Lys
XM_006713072.2:c.5416G>A	XP_006713135.1:p.Glu1806Lys
XM_006713072.3:c.5416G>A	XP_006713135.1:p.Glu1806Lys
XM_011533532.1:c.5476G>A	XP_011531834.1:p.Glu1826Lys
XM_011533533.1:c.5497G>A	XP_011531835.1:p.Glu1833Lys
XM_011533533.2:c.5497G>A	XP_011531835.1:p.Glu1833Lys
XM_011533534.1:c.5128G>A	XP_011531836.1:p.Glu1710Lys
XM_011533535.1:c.4957G>A	XP_011531837.1:p.Glu1653Lys
XM_011533536.1:c.4843G>A	XP_011531838.1:p.Glu1615Lys
XM_011533537.1:c.4405G>A	XP_011531839.1:p.Glu1469Lys
XM_017006010.1:c.5497G>A	XP_016861499.1:p.Glu1833Lys
XM_017006011.1:c.5476G>A	XP_016861500.1:p.Glu1826Lys
XM_017006012.1:c.5416G>A	XP_016861501.1:p.Glu1806Lys
XM_017006013.1:c.5497G>A	XP_016861502.1:p.Glu1833Lys
XM_017006014.1:c.5395G>A	XP_016861503.1:p.Glu1799Lys
XM_017006015.1:c.5128G>A	XP_016861504.1:p.Glu1710Lys
XM_017006016.1:c.4957G>A	XP_016861505.1:p.Glu1653Lys
XM_017006017.1:c.1969G>A	XP_016861506.1:p.Glu657Lys
XR_940397.1:n.5673G>A
XR_940397.2:n.5673G>A
XR_940398.1:n.5687G>A