Canonical Allele Identifier: CA352536570

Gene: NBEAL2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47006021G>A , CM000665.2:g.47006021G>A	GRCh38
NC_000003.11:g.47047511G>A , CM000665.1:g.47047511G>A	GRCh37
NC_000003.10:g.47022515G>A	NCBI36
NG_031914.1:g.31339G>A , LRG_568:g.31339G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015175.3:c.6877G>A MANE Select	NP_055990.1:p.Ala2293Thr
ENST00000450053.8:c.6877G>A MANE Select	ENSP00000415034.2:p.Ala2293Thr
NM_001365116.1:c.6775G>A	NP_001352045.1:p.Ala2259Thr
NM_001365116.2:c.6775G>A	NP_001352045.1:p.Ala2259Thr
NM_015175.2:c.6877G>A , LRG_568t1:c.6877G>A	NP_055990.1:p.Ala2293Thr
ENST00000416683.5:c.4740G>A
ENST00000423436.1:c.358G>A	ENSP00000415063.1:p.Ala120Thr
ENST00000443829.5:c.1982G>A
ENST00000450053.7:c.6877G>A	ENSP00000415034.2:p.Ala2293Thr
ENST00000486870.1:n.936G>A
ENST00000651350.1:n.137G>A
ENST00000651453.1:n.878G>A
ENST00000651747.1:c.6775G>A	ENSP00000499216.1:p.Ala2259Thr
XM_005264992.2:c.6775G>A	XP_005265049.1:p.Ala2259Thr
XM_005264993.2:c.3349G>A	XP_005265050.1:p.Ala1117Thr
XM_006713072.2:c.6796G>A	XP_006713135.1:p.Ala2266Thr
XM_006713072.3:c.6796G>A	XP_006713135.1:p.Ala2266Thr
XM_011533532.1:c.6856G>A	XP_011531834.1:p.Ala2286Thr
XM_011533533.1:c.6877G>A	XP_011531835.1:p.Ala2293Thr
XM_011533533.2:c.6877G>A	XP_011531835.1:p.Ala2293Thr
XM_011533534.1:c.6508G>A	XP_011531836.1:p.Ala2170Thr
XM_011533535.1:c.6337G>A	XP_011531837.1:p.Ala2113Thr
XM_011533536.1:c.6223G>A	XP_011531838.1:p.Ala2075Thr
XM_011533537.1:c.5785G>A	XP_011531839.1:p.Ala1929Thr
XM_017006010.1:c.6877G>A	XP_016861499.1:p.Ala2293Thr
XM_017006011.1:c.6856G>A	XP_016861500.1:p.Ala2286Thr
XM_017006012.1:c.6796G>A	XP_016861501.1:p.Ala2266Thr
XM_017006013.1:c.6877G>A	XP_016861502.1:p.Ala2293Thr
XM_017006014.1:c.6775G>A	XP_016861503.1:p.Ala2259Thr
XM_017006015.1:c.6508G>A	XP_016861504.1:p.Ala2170Thr
XM_017006016.1:c.6337G>A	XP_016861505.1:p.Ala2113Thr
XM_017006017.1:c.3349G>A	XP_016861506.1:p.Ala1117Thr
XR_940397.1:n.7053G>A
XR_940397.2:n.7053G>A