Canonical Allele Identifier: CA2362200

Gene: NBEAL2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47007922G>A , CM000665.2:g.47007922G>A	GRCh38
NC_000003.11:g.47049412G>A , CM000665.1:g.47049412G>A	GRCh37
NC_000003.10:g.47024416G>A	NCBI36
NG_031914.1:g.33240G>A , LRG_568:g.33240G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015175.3:c.7602+12G>A MANE Select	NP_055990.1:n.7602+12G>A
ENST00000450053.8:c.7602+12G>A MANE Select	ENSP00000415034.2:n.7602+12G>A
NM_001365116.1:c.7500+12G>A	NP_001352045.1:n.7500+12G>A
NM_001365116.2:c.7500+12G>A	NP_001352045.1:n.7500+12G>A
NM_015175.2:c.7602+12G>A , LRG_568t1:c.7602+12G>A	NP_055990.1:n.7602+12G>A
ENST00000416683.5:c.5465+12G>A
ENST00000443829.5:c.2617+12G>A
ENST00000450053.7:c.7602+12G>A	ENSP00000415034.2:n.7602+12G>A
ENST00000461036.1:n.603G>A
ENST00000469349.1:n.160G>A
ENST00000476095.5:n.395+12G>A
ENST00000477412.1:n.470+12G>A
ENST00000651453.1:n.2779G>A
ENST00000651747.1:c.7500+12G>A	ENSP00000499216.1:n.7500+12G>A
XM_005264992.2:c.7500+12G>A	XP_005265049.1:n.7500+12G>A
XM_005264993.2:c.4074+12G>A	XP_005265050.1:n.4074+12G>A
XM_006713072.2:c.7521+12G>A	XP_006713135.1:n.7521+12G>A
XM_006713072.3:c.7521+12G>A	XP_006713135.1:n.7521+12G>A
XM_011533532.1:c.7581+12G>A	XP_011531834.1:n.7581+12G>A
XM_011533533.1:c.7512+12G>A	XP_011531835.1:n.7512+12G>A
XM_011533533.2:c.7512+12G>A	XP_011531835.1:n.7512+12G>A
XM_011533534.1:c.7233+12G>A	XP_011531836.1:n.7233+12G>A
XM_011533535.1:c.7062+12G>A	XP_011531837.1:n.7062+12G>A
XM_011533536.1:c.6948+12G>A	XP_011531838.1:n.6948+12G>A
XM_011533537.1:c.6510+12G>A	XP_011531839.1:n.6510+12G>A
XM_017006010.1:c.7602+12G>A	XP_016861499.1:n.7602+12G>A
XM_017006011.1:c.7581+12G>A	XP_016861500.1:n.7581+12G>A
XM_017006012.1:c.7521+12G>A	XP_016861501.1:n.7521+12G>A
XM_017006013.1:c.7512+12G>A	XP_016861502.1:n.7512+12G>A
XM_017006014.1:c.7500+12G>A	XP_016861503.1:n.7500+12G>A
XM_017006015.1:c.7233+12G>A	XP_016861504.1:n.7233+12G>A
XM_017006016.1:c.7062+12G>A	XP_016861505.1:n.7062+12G>A
XM_017006017.1:c.4074+12G>A	XP_016861506.1:n.4074+12G>A
XR_940397.1:n.7578+12G>A
XR_940397.2:n.7578+12G>A