Canonical Allele Identifier: CA2360308

Gene: NBEAL2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46993957C>T , CM000665.2:g.46993957C>T	GRCh38
NC_000003.11:g.47035447C>T , CM000665.1:g.47035447C>T	GRCh37
NC_000003.10:g.47010451C>T	NCBI36
NG_031914.1:g.19275C>T , LRG_568:g.19275C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015175.3:c.1134C>T MANE Select	NP_055990.1:p.Asp378=
ENST00000450053.8:c.1134C>T MANE Select	ENSP00000415034.2:p.Asp378=
NM_001365116.1:c.1032C>T	NP_001352045.1:p.Asp344=
NM_001365116.2:c.1032C>T	NP_001352045.1:p.Asp344=
NM_015175.2:c.1134C>T , LRG_568t1:c.1134C>T	NP_055990.1:p.Asp378=
ENST00000450053.7:c.1134C>T	ENSP00000415034.2:p.Asp378=
ENST00000651747.1:c.1032C>T	ENSP00000499216.1:p.Asp344=
XM_005264992.2:c.1032C>T	XP_005265049.1:p.Asp344=
XM_006713072.2:c.1053C>T	XP_006713135.1:p.Asp351=
XM_006713072.3:c.1053C>T	XP_006713135.1:p.Asp351=
XM_011533532.1:c.1113C>T	XP_011531834.1:p.Asp371=
XM_011533533.1:c.1134C>T	XP_011531835.1:p.Asp378=
XM_011533533.2:c.1134C>T	XP_011531835.1:p.Asp378=
XM_011533534.1:c.765C>T	XP_011531836.1:p.Asp255=
XM_011533535.1:c.594C>T	XP_011531837.1:p.Asp198=
XM_011533536.1:c.480C>T	XP_011531838.1:p.Asp160=
XM_011533537.1:c.42C>T	XP_011531839.1:p.Asp14=
XM_017006010.1:c.1134C>T	XP_016861499.1:p.Asp378=
XM_017006011.1:c.1113C>T	XP_016861500.1:p.Asp371=
XM_017006012.1:c.1053C>T	XP_016861501.1:p.Asp351=
XM_017006013.1:c.1134C>T	XP_016861502.1:p.Asp378=
XM_017006014.1:c.1032C>T	XP_016861503.1:p.Asp344=
XM_017006015.1:c.765C>T	XP_016861504.1:p.Asp255=
XM_017006016.1:c.594C>T	XP_016861505.1:p.Asp198=
XR_940397.1:n.1310C>T
XR_940397.2:n.1310C>T
XR_940398.1:n.1310C>T