Canonical Allele Identifier: CA1362362950

Gene: NBEAL2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46999969G= , CM000665.2:g.46999969G=	GRCh38
NC_000003.11:g.47041459G= , CM000665.1:g.47041459G=	GRCh37
NC_000003.10:g.47016463G=	NCBI36
NG_031914.1:g.25287G= , LRG_568:g.25287G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.3870G= MANE Select	ENSP00000415034.2:p.Arg1290=
ENST00000651747.1:c.3768G=	ENSP00000499216.1:p.Arg1256=
ENST00000652744.1:n.207G=
ENST00000416683.5:c.1960-227G=
ENST00000450053.7:c.3870G=	ENSP00000415034.2:p.Arg1290=
NM_015175.2:c.3870G= , LRG_568t1:c.3870G=	NP_055990.1:p.Arg1290=
XM_005264992.2:c.3768G=	XP_005265049.1:p.Arg1256=
XM_005264993.2:c.342G=	XP_005265050.1:p.Arg114=
XM_006713072.2:c.3789G=	XP_006713135.1:p.Arg1263=
XM_011533532.1:c.3849G=	XP_011531834.1:p.Arg1283=
XM_011533533.1:c.3870G=	XP_011531835.1:p.Arg1290=
XM_011533534.1:c.3501G=	XP_011531836.1:p.Arg1167=
XM_011533535.1:c.3330G=	XP_011531837.1:p.Arg1110=
XM_011533536.1:c.3216G=	XP_011531838.1:p.Arg1072=
XM_011533537.1:c.2778G=	XP_011531839.1:p.Arg926=
XR_940397.1:n.4046G=
XR_940398.1:n.4046G=
NM_001365116.1:c.3768G=	NP_001352045.1:p.Arg1256=
XM_006713072.3:c.3789G=	XP_006713135.1:p.Arg1263=
XM_011533533.2:c.3870G=	XP_011531835.1:p.Arg1290=
XM_017006010.1:c.3870G=	XP_016861499.1:p.Arg1290=
XM_017006011.1:c.3849G=	XP_016861500.1:p.Arg1283=
XM_017006012.1:c.3789G=	XP_016861501.1:p.Arg1263=
XM_017006013.1:c.3870G=	XP_016861502.1:p.Arg1290=
XM_017006014.1:c.3768G=	XP_016861503.1:p.Arg1256=
XM_017006015.1:c.3501G=	XP_016861504.1:p.Arg1167=
XM_017006016.1:c.3330G=	XP_016861505.1:p.Arg1110=
XM_017006017.1:c.342G=	XP_016861506.1:p.Arg114=
XR_940397.2:n.4046G=
NM_001365116.2:c.3768G=	NP_001352045.1:p.Arg1256=
NM_015175.3:c.3870G= MANE Select	NP_055990.1:p.Arg1290=