Canonical Allele Identifier: CA2360272

Gene: NBEAL2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46992495G>A , CM000665.2:g.46992495G>A	GRCh38
NC_000003.11:g.47033985G>A , CM000665.1:g.47033985G>A	GRCh37
NC_000003.10:g.47008989G>A	NCBI36
NG_031914.1:g.17813G>A , LRG_568:g.17813G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015175.3:c.1053G>A MANE Select	NP_055990.1:p.Ala351=
ENST00000450053.8:c.1053G>A MANE Select	ENSP00000415034.2:p.Ala351=
NM_001365116.1:c.1011+549G>A	NP_001352045.1:n.1011+549G>A
NM_001365116.2:c.1011+549G>A	NP_001352045.1:n.1011+549G>A
NM_015175.2:c.1053G>A , LRG_568t1:c.1053G>A	NP_055990.1:p.Ala351=
ENST00000450053.7:c.1053G>A	ENSP00000415034.2:p.Ala351=
ENST00000651747.1:c.1011+549G>A	ENSP00000499216.1:n.1011+549G>A
XM_005264992.2:c.1011+549G>A	XP_005265049.1:n.1011+549G>A
XM_006713072.2:c.1032+549G>A	XP_006713135.1:n.1032+549G>A
XM_006713072.3:c.1032+549G>A	XP_006713135.1:n.1032+549G>A
XM_011533532.1:c.1032G>A	XP_011531834.1:p.Ala344=
XM_011533533.1:c.1053G>A	XP_011531835.1:p.Ala351=
XM_011533533.2:c.1053G>A	XP_011531835.1:p.Ala351=
XM_011533534.1:c.684G>A	XP_011531836.1:p.Ala228=
XM_011533535.1:c.513G>A	XP_011531837.1:p.Ala171=
XM_011533536.1:c.399G>A	XP_011531838.1:p.Ala133=
XM_011533537.1:c.-41+549G>A	XP_011531839.1:n.-41+549G>A
XM_017006010.1:c.1053G>A	XP_016861499.1:p.Ala351=
XM_017006011.1:c.1032G>A	XP_016861500.1:p.Ala344=
XM_017006012.1:c.1032+549G>A	XP_016861501.1:n.1032+549G>A
XM_017006013.1:c.1053G>A	XP_016861502.1:p.Ala351=
XM_017006014.1:c.1011+549G>A	XP_016861503.1:n.1011+549G>A
XM_017006015.1:c.684G>A	XP_016861504.1:p.Ala228=
XM_017006016.1:c.513G>A	XP_016861505.1:p.Ala171=
XR_940397.1:n.1229G>A
XR_940397.2:n.1229G>A
XR_940398.1:n.1229G>A