Canonical Allele Identifier: CA1362362660

Gene: NBEAL2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46999363C= , CM000665.2:g.46999363C=	GRCh38
NC_000003.11:g.47040853C= , CM000665.1:g.47040853C=	GRCh37
NC_000003.10:g.47015857C=	NCBI36
NG_031914.1:g.24681C= , LRG_568:g.24681C=

Transcript Alleles

HGVS	Amino-acid Change
NM_015175.3:c.3592C= MANE Select	NP_055990.1:p.Gln1198=
ENST00000450053.8:c.3592C= MANE Select	ENSP00000415034.2:p.Gln1198=
NM_001365116.1:c.3490C=	NP_001352045.1:p.Gln1164=
NM_001365116.2:c.3490C=	NP_001352045.1:p.Gln1164=
NM_015175.2:c.3592C= , LRG_568t1:c.3592C=	NP_055990.1:p.Gln1198=
ENST00000416683.5:c.1848C=
ENST00000450053.7:c.3592C=	ENSP00000415034.2:p.Gln1198=
ENST00000651747.1:c.3490C=	ENSP00000499216.1:p.Gln1164=
XM_005264992.2:c.3490C=	XP_005265049.1:p.Gln1164=
XM_005264993.2:c.64C=	XP_005265050.1:p.Gln22=
XM_006713072.2:c.3511C=	XP_006713135.1:p.Gln1171=
XM_006713072.3:c.3511C=	XP_006713135.1:p.Gln1171=
XM_011533532.1:c.3571C=	XP_011531834.1:p.Gln1191=
XM_011533533.1:c.3592C=	XP_011531835.1:p.Gln1198=
XM_011533533.2:c.3592C=	XP_011531835.1:p.Gln1198=
XM_011533534.1:c.3223C=	XP_011531836.1:p.Gln1075=
XM_011533535.1:c.3052C=	XP_011531837.1:p.Gln1018=
XM_011533536.1:c.2938C=	XP_011531838.1:p.Gln980=
XM_011533537.1:c.2500C=	XP_011531839.1:p.Gln834=
XM_017006010.1:c.3592C=	XP_016861499.1:p.Gln1198=
XM_017006011.1:c.3571C=	XP_016861500.1:p.Gln1191=
XM_017006012.1:c.3511C=	XP_016861501.1:p.Gln1171=
XM_017006013.1:c.3592C=	XP_016861502.1:p.Gln1198=
XM_017006014.1:c.3490C=	XP_016861503.1:p.Gln1164=
XM_017006015.1:c.3223C=	XP_016861504.1:p.Gln1075=
XM_017006016.1:c.3052C=	XP_016861505.1:p.Gln1018=
XM_017006017.1:c.64C=	XP_016861506.1:p.Gln22=
XR_940397.1:n.3768C=
XR_940397.2:n.3768C=
XR_940398.1:n.3768C=