Canonical Allele Identifier: CA1362362918

Gene: NBEAL2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46999903C= , CM000665.2:g.46999903C=	GRCh38
NC_000003.11:g.47041393C= , CM000665.1:g.47041393C=	GRCh37
NC_000003.10:g.47016397C=	NCBI36
NG_031914.1:g.25221C= , LRG_568:g.25221C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.3804C= MANE Select	ENSP00000415034.2:p.Ile1268=
ENST00000651747.1:c.3702C=	ENSP00000499216.1:p.Ile1234=
ENST00000652744.1:n.141C=
ENST00000416683.5:c.1960-293C=
ENST00000450053.7:c.3804C=	ENSP00000415034.2:p.Ile1268=
NM_015175.2:c.3804C= , LRG_568t1:c.3804C=	NP_055990.1:p.Ile1268=
XM_005264992.2:c.3702C=	XP_005265049.1:p.Ile1234=
XM_005264993.2:c.276C=	XP_005265050.1:p.Ile92=
XM_006713072.2:c.3723C=	XP_006713135.1:p.Ile1241=
XM_011533532.1:c.3783C=	XP_011531834.1:p.Ile1261=
XM_011533533.1:c.3804C=	XP_011531835.1:p.Ile1268=
XM_011533534.1:c.3435C=	XP_011531836.1:p.Ile1145=
XM_011533535.1:c.3264C=	XP_011531837.1:p.Ile1088=
XM_011533536.1:c.3150C=	XP_011531838.1:p.Ile1050=
XM_011533537.1:c.2712C=	XP_011531839.1:p.Ile904=
XR_940397.1:n.3980C=
XR_940398.1:n.3980C=
NM_001365116.1:c.3702C=	NP_001352045.1:p.Ile1234=
XM_006713072.3:c.3723C=	XP_006713135.1:p.Ile1241=
XM_011533533.2:c.3804C=	XP_011531835.1:p.Ile1268=
XM_017006010.1:c.3804C=	XP_016861499.1:p.Ile1268=
XM_017006011.1:c.3783C=	XP_016861500.1:p.Ile1261=
XM_017006012.1:c.3723C=	XP_016861501.1:p.Ile1241=
XM_017006013.1:c.3804C=	XP_016861502.1:p.Ile1268=
XM_017006014.1:c.3702C=	XP_016861503.1:p.Ile1234=
XM_017006015.1:c.3435C=	XP_016861504.1:p.Ile1145=
XM_017006016.1:c.3264C=	XP_016861505.1:p.Ile1088=
XM_017006017.1:c.276C=	XP_016861506.1:p.Ile92=
XR_940397.2:n.3980C=
NM_001365116.2:c.3702C=	NP_001352045.1:p.Ile1234=
NM_015175.3:c.3804C= MANE Select	NP_055990.1:p.Ile1268=