Canonical Allele Identifier: CA2361913

Gene: NBEAL2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47005585C>A , CM000665.2:g.47005585C>A	GRCh38
NC_000003.11:g.47047075C>A , CM000665.1:g.47047075C>A	GRCh37
NC_000003.10:g.47022079C>A	NCBI36
NG_031914.1:g.30903C>A , LRG_568:g.30903C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015175.3:c.6657C>A MANE Select	NP_055990.1:p.Phe2219Leu
ENST00000450053.8:c.6657C>A MANE Select	ENSP00000415034.2:p.Phe2219Leu
NM_001365116.1:c.6555C>A	NP_001352045.1:p.Phe2185Leu
NM_001365116.2:c.6555C>A	NP_001352045.1:p.Phe2185Leu
NM_015175.2:c.6657C>A , LRG_568t1:c.6657C>A	NP_055990.1:p.Phe2219Leu
ENST00000416683.5:c.4520C>A
ENST00000423436.1:c.138C>A	ENSP00000415063.1:p.Phe46Leu
ENST00000441027.5:c.556C>A	ENSP00000409601.1:n.556C>A
ENST00000443829.5:c.1762C>A
ENST00000450053.7:c.6657C>A	ENSP00000415034.2:p.Phe2219Leu
ENST00000486870.1:n.716C>A
ENST00000651453.1:n.442C>A
ENST00000651747.1:c.6555C>A	ENSP00000499216.1:p.Phe2185Leu
XM_005264992.2:c.6555C>A	XP_005265049.1:p.Phe2185Leu
XM_005264993.2:c.3129C>A	XP_005265050.1:p.Phe1043Leu
XM_006713072.2:c.6576C>A	XP_006713135.1:p.Phe2192Leu
XM_006713072.3:c.6576C>A	XP_006713135.1:p.Phe2192Leu
XM_011533532.1:c.6636C>A	XP_011531834.1:p.Phe2212Leu
XM_011533533.1:c.6657C>A	XP_011531835.1:p.Phe2219Leu
XM_011533533.2:c.6657C>A	XP_011531835.1:p.Phe2219Leu
XM_011533534.1:c.6288C>A	XP_011531836.1:p.Phe2096Leu
XM_011533535.1:c.6117C>A	XP_011531837.1:p.Phe2039Leu
XM_011533536.1:c.6003C>A	XP_011531838.1:p.Phe2001Leu
XM_011533537.1:c.5565C>A	XP_011531839.1:p.Phe1855Leu
XM_017006010.1:c.6657C>A	XP_016861499.1:p.Phe2219Leu
XM_017006011.1:c.6636C>A	XP_016861500.1:p.Phe2212Leu
XM_017006012.1:c.6576C>A	XP_016861501.1:p.Phe2192Leu
XM_017006013.1:c.6657C>A	XP_016861502.1:p.Phe2219Leu
XM_017006014.1:c.6555C>A	XP_016861503.1:p.Phe2185Leu
XM_017006015.1:c.6288C>A	XP_016861504.1:p.Phe2096Leu
XM_017006016.1:c.6117C>A	XP_016861505.1:p.Phe2039Leu
XM_017006017.1:c.3129C>A	XP_016861506.1:p.Phe1043Leu
XR_940397.1:n.6833C>A
XR_940397.2:n.6833C>A