Canonical Allele Identifier: CA352510654

Gene: NBEAL2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46997258G>A , CM000665.2:g.46997258G>A	GRCh38
NC_000003.11:g.47038748G>A , CM000665.1:g.47038748G>A	GRCh37
NC_000003.10:g.47013752G>A	NCBI36
NG_031914.1:g.22576G>A , LRG_568:g.22576G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015175.3:c.2650-1G>A MANE Select	NP_055990.1:n.2650-1G>A
ENST00000450053.8:c.2650-1G>A MANE Select	ENSP00000415034.2:n.2650-1G>A
NM_001365116.1:c.2548-1G>A	NP_001352045.1:n.2548-1G>A
NM_001365116.2:c.2548-1G>A	NP_001352045.1:n.2548-1G>A
NM_015175.2:c.2650-1G>A , LRG_568t1:c.2650-1G>A	NP_055990.1:n.2650-1G>A
ENST00000416683.5:c.1065-1G>A
ENST00000450053.7:c.2650-1G>A	ENSP00000415034.2:n.2650-1G>A
ENST00000651747.1:c.2548-1G>A	ENSP00000499216.1:n.2548-1G>A
ENST00000652242.1:n.219-1G>A
XM_005264992.2:c.2548-1G>A	XP_005265049.1:n.2548-1G>A
XM_006713072.2:c.2569-1G>A	XP_006713135.1:n.2569-1G>A
XM_006713072.3:c.2569-1G>A	XP_006713135.1:n.2569-1G>A
XM_011533532.1:c.2629-1G>A	XP_011531834.1:n.2629-1G>A
XM_011533533.1:c.2650-1G>A	XP_011531835.1:n.2650-1G>A
XM_011533533.2:c.2650-1G>A	XP_011531835.1:n.2650-1G>A
XM_011533534.1:c.2281-1G>A	XP_011531836.1:n.2281-1G>A
XM_011533535.1:c.2110-1G>A	XP_011531837.1:n.2110-1G>A
XM_011533536.1:c.1996-1G>A	XP_011531838.1:n.1996-1G>A
XM_011533537.1:c.1558-1G>A	XP_011531839.1:n.1558-1G>A
XM_017006010.1:c.2650-1G>A	XP_016861499.1:n.2650-1G>A
XM_017006011.1:c.2629-1G>A	XP_016861500.1:n.2629-1G>A
XM_017006012.1:c.2569-1G>A	XP_016861501.1:n.2569-1G>A
XM_017006013.1:c.2650-1G>A	XP_016861502.1:n.2650-1G>A
XM_017006014.1:c.2548-1G>A	XP_016861503.1:n.2548-1G>A
XM_017006015.1:c.2281-1G>A	XP_016861504.1:n.2281-1G>A
XM_017006016.1:c.2110-1G>A	XP_016861505.1:n.2110-1G>A
XR_940397.1:n.2826-1G>A
XR_940397.2:n.2826-1G>A
XR_940398.1:n.2826-1G>A