Canonical Allele Identifier: CA2361906

Gene: NBEAL2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47005552C>T , CM000665.2:g.47005552C>T	GRCh38
NC_000003.11:g.47047042C>T , CM000665.1:g.47047042C>T	GRCh37
NC_000003.10:g.47022046C>T	NCBI36
NG_031914.1:g.30870C>T , LRG_568:g.30870C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015175.3:c.6624C>T MANE Select	NP_055990.1:p.Ser2208=
ENST00000450053.8:c.6624C>T MANE Select	ENSP00000415034.2:p.Ser2208=
NM_001365116.1:c.6522C>T	NP_001352045.1:p.Ser2174=
NM_001365116.2:c.6522C>T	NP_001352045.1:p.Ser2174=
NM_015175.2:c.6624C>T , LRG_568t1:c.6624C>T	NP_055990.1:p.Ser2208=
ENST00000416683.5:c.4487C>T
ENST00000423436.1:c.105C>T	ENSP00000415063.1:p.Ser35=
ENST00000441027.5:c.523C>T	ENSP00000409601.1:n.523C>T
ENST00000443829.5:c.1729C>T
ENST00000450053.7:c.6624C>T	ENSP00000415034.2:p.Ser2208=
ENST00000486870.1:n.683C>T
ENST00000651453.1:n.409C>T
ENST00000651747.1:c.6522C>T	ENSP00000499216.1:p.Ser2174=
XM_005264992.2:c.6522C>T	XP_005265049.1:p.Ser2174=
XM_005264993.2:c.3096C>T	XP_005265050.1:p.Ser1032=
XM_006713072.2:c.6543C>T	XP_006713135.1:p.Ser2181=
XM_006713072.3:c.6543C>T	XP_006713135.1:p.Ser2181=
XM_011533532.1:c.6603C>T	XP_011531834.1:p.Ser2201=
XM_011533533.1:c.6624C>T	XP_011531835.1:p.Ser2208=
XM_011533533.2:c.6624C>T	XP_011531835.1:p.Ser2208=
XM_011533534.1:c.6255C>T	XP_011531836.1:p.Ser2085=
XM_011533535.1:c.6084C>T	XP_011531837.1:p.Ser2028=
XM_011533536.1:c.5970C>T	XP_011531838.1:p.Ser1990=
XM_011533537.1:c.5532C>T	XP_011531839.1:p.Ser1844=
XM_017006010.1:c.6624C>T	XP_016861499.1:p.Ser2208=
XM_017006011.1:c.6603C>T	XP_016861500.1:p.Ser2201=
XM_017006012.1:c.6543C>T	XP_016861501.1:p.Ser2181=
XM_017006013.1:c.6624C>T	XP_016861502.1:p.Ser2208=
XM_017006014.1:c.6522C>T	XP_016861503.1:p.Ser2174=
XM_017006015.1:c.6255C>T	XP_016861504.1:p.Ser2085=
XM_017006016.1:c.6084C>T	XP_016861505.1:p.Ser2028=
XM_017006017.1:c.3096C>T	XP_016861506.1:p.Ser1032=
XR_940397.1:n.6800C>T
XR_940397.2:n.6800C>T