Canonical Allele Identifier: CA352532459

Gene: NBEAL2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47005275C>T , CM000665.2:g.47005275C>T	GRCh38
NC_000003.11:g.47046765C>T , CM000665.1:g.47046765C>T	GRCh37
NC_000003.10:g.47021769C>T	NCBI36
NG_031914.1:g.30593C>T , LRG_568:g.30593C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015175.3:c.6514C>T MANE Select	NP_055990.1:p.Arg2172Cys
ENST00000450053.8:c.6514C>T MANE Select	ENSP00000415034.2:p.Arg2172Cys
NM_001365116.1:c.6412C>T	NP_001352045.1:p.Arg2138Cys
NM_001365116.2:c.6412C>T	NP_001352045.1:p.Arg2138Cys
NM_015175.2:c.6514C>T , LRG_568t1:c.6514C>T	NP_055990.1:p.Arg2172Cys
ENST00000416683.5:c.4377C>T
ENST00000441027.5:c.413C>T	ENSP00000409601.1:n.413C>T
ENST00000443829.5:c.1619C>T
ENST00000450053.7:c.6514C>T	ENSP00000415034.2:p.Arg2172Cys
ENST00000486870.1:n.573C>T
ENST00000651453.1:n.132C>T
ENST00000651747.1:c.6412C>T	ENSP00000499216.1:p.Arg2138Cys
XM_005264992.2:c.6412C>T	XP_005265049.1:p.Arg2138Cys
XM_005264993.2:c.2986C>T	XP_005265050.1:p.Arg996Cys
XM_006713072.2:c.6433C>T	XP_006713135.1:p.Arg2145Cys
XM_006713072.3:c.6433C>T	XP_006713135.1:p.Arg2145Cys
XM_011533532.1:c.6493C>T	XP_011531834.1:p.Arg2165Cys
XM_011533533.1:c.6514C>T	XP_011531835.1:p.Arg2172Cys
XM_011533533.2:c.6514C>T	XP_011531835.1:p.Arg2172Cys
XM_011533534.1:c.6145C>T	XP_011531836.1:p.Arg2049Cys
XM_011533535.1:c.5974C>T	XP_011531837.1:p.Arg1992Cys
XM_011533536.1:c.5860C>T	XP_011531838.1:p.Arg1954Cys
XM_011533537.1:c.5422C>T	XP_011531839.1:p.Arg1808Cys
XM_017006010.1:c.6514C>T	XP_016861499.1:p.Arg2172Cys
XM_017006011.1:c.6493C>T	XP_016861500.1:p.Arg2165Cys
XM_017006012.1:c.6433C>T	XP_016861501.1:p.Arg2145Cys
XM_017006013.1:c.6514C>T	XP_016861502.1:p.Arg2172Cys
XM_017006014.1:c.6412C>T	XP_016861503.1:p.Arg2138Cys
XM_017006015.1:c.6145C>T	XP_016861504.1:p.Arg2049Cys
XM_017006016.1:c.5974C>T	XP_016861505.1:p.Arg1992Cys
XM_017006017.1:c.2986C>T	XP_016861506.1:p.Arg996Cys
XR_940397.1:n.6690C>T
XR_940397.2:n.6690C>T