Canonical Allele Identifier: CA352523297

Gene: NBEAL2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47002262G>T , CM000665.2:g.47002262G>T	GRCh38
NC_000003.11:g.47043752G>T , CM000665.1:g.47043752G>T	GRCh37
NC_000003.10:g.47018756G>T	NCBI36
NG_031914.1:g.27580G>T , LRG_568:g.27580G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015175.3:c.5125G>T MANE Select	NP_055990.1:p.Glu1709Ter
ENST00000450053.8:c.5125G>T MANE Select	ENSP00000415034.2:p.Glu1709Ter
NM_001365116.1:c.5023G>T	NP_001352045.1:p.Glu1675Ter
NM_001365116.2:c.5023G>T	NP_001352045.1:p.Glu1675Ter
NM_015175.2:c.5125G>T , LRG_568t1:c.5125G>T	NP_055990.1:p.Glu1709Ter
ENST00000416683.5:c.2988G>T
ENST00000443829.5:c.230G>T
ENST00000450053.7:c.5125G>T	ENSP00000415034.2:p.Glu1709Ter
ENST00000651747.1:c.5023G>T	ENSP00000499216.1:p.Glu1675Ter
XM_005264992.2:c.5023G>T	XP_005265049.1:p.Glu1675Ter
XM_005264993.2:c.1597G>T	XP_005265050.1:p.Glu533Ter
XM_006713072.2:c.5044G>T	XP_006713135.1:p.Glu1682Ter
XM_006713072.3:c.5044G>T	XP_006713135.1:p.Glu1682Ter
XM_011533532.1:c.5104G>T	XP_011531834.1:p.Glu1702Ter
XM_011533533.1:c.5125G>T	XP_011531835.1:p.Glu1709Ter
XM_011533533.2:c.5125G>T	XP_011531835.1:p.Glu1709Ter
XM_011533534.1:c.4756G>T	XP_011531836.1:p.Glu1586Ter
XM_011533535.1:c.4585G>T	XP_011531837.1:p.Glu1529Ter
XM_011533536.1:c.4471G>T	XP_011531838.1:p.Glu1491Ter
XM_011533537.1:c.4033G>T	XP_011531839.1:p.Glu1345Ter
XM_017006010.1:c.5125G>T	XP_016861499.1:p.Glu1709Ter
XM_017006011.1:c.5104G>T	XP_016861500.1:p.Glu1702Ter
XM_017006012.1:c.5044G>T	XP_016861501.1:p.Glu1682Ter
XM_017006013.1:c.5125G>T	XP_016861502.1:p.Glu1709Ter
XM_017006014.1:c.5023G>T	XP_016861503.1:p.Glu1675Ter
XM_017006015.1:c.4756G>T	XP_016861504.1:p.Glu1586Ter
XM_017006016.1:c.4585G>T	XP_016861505.1:p.Glu1529Ter
XM_017006017.1:c.1597G>T	XP_016861506.1:p.Glu533Ter
XR_940397.1:n.5301G>T
XR_940397.2:n.5301G>T
XR_940398.1:n.5301G>T