Canonical Allele Identifier: CA1362363146

Gene: NBEAL2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000355C= , CM000665.2:g.47000355C=	GRCh38
NC_000003.11:g.47041845C= , CM000665.1:g.47041845C=	GRCh37
NC_000003.10:g.47016849C=	NCBI36
NG_031914.1:g.25673C= , LRG_568:g.25673C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.4256C= MANE Select	ENSP00000415034.2:p.Pro1419=
ENST00000651747.1:c.4154C=	ENSP00000499216.1:p.Pro1385=
ENST00000416683.5:c.2119C=
ENST00000450053.7:c.4256C=	ENSP00000415034.2:p.Pro1419=
NM_015175.2:c.4256C= , LRG_568t1:c.4256C=	NP_055990.1:p.Pro1419=
XM_005264992.2:c.4154C=	XP_005265049.1:p.Pro1385=
XM_005264993.2:c.728C=	XP_005265050.1:p.Pro243=
XM_006713072.2:c.4175C=	XP_006713135.1:p.Pro1392=
XM_011533532.1:c.4235C=	XP_011531834.1:p.Pro1412=
XM_011533533.1:c.4256C=	XP_011531835.1:p.Pro1419=
XM_011533534.1:c.3887C=	XP_011531836.1:p.Pro1296=
XM_011533535.1:c.3716C=	XP_011531837.1:p.Pro1239=
XM_011533536.1:c.3602C=	XP_011531838.1:p.Pro1201=
XM_011533537.1:c.3164C=	XP_011531839.1:p.Pro1055=
XR_940397.1:n.4432C=
XR_940398.1:n.4432C=
NM_001365116.1:c.4154C=	NP_001352045.1:p.Pro1385=
XM_006713072.3:c.4175C=	XP_006713135.1:p.Pro1392=
XM_011533533.2:c.4256C=	XP_011531835.1:p.Pro1419=
XM_017006010.1:c.4256C=	XP_016861499.1:p.Pro1419=
XM_017006011.1:c.4235C=	XP_016861500.1:p.Pro1412=
XM_017006012.1:c.4175C=	XP_016861501.1:p.Pro1392=
XM_017006013.1:c.4256C=	XP_016861502.1:p.Pro1419=
XM_017006014.1:c.4154C=	XP_016861503.1:p.Pro1385=
XM_017006015.1:c.3887C=	XP_016861504.1:p.Pro1296=
XM_017006016.1:c.3716C=	XP_016861505.1:p.Pro1239=
XM_017006017.1:c.728C=	XP_016861506.1:p.Pro243=
XR_940397.2:n.4432C=
NM_001365116.2:c.4154C=	NP_001352045.1:p.Pro1385=
NM_015175.3:c.4256C= MANE Select	NP_055990.1:p.Pro1419=