Canonical Allele Identifier: CA2577577045

Gene: NBEAL2

Linked Data

• gnomAD v4: 3-46995663-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46995663C>T , CM000665.2:g.46995663C>T	GRCh38
NC_000003.11:g.47037153C>T , CM000665.1:g.47037153C>T	GRCh37
NC_000003.10:g.47012157C>T	NCBI36
NG_031914.1:g.20981C>T , LRG_568:g.20981C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000450053.8:c.1898+30C>T MANE Select	ENSP00000415034.2:n.1898+30C>T
ENST00000651747.1:c.1796+30C>T	ENSP00000499216.1:n.1796+30C>T
ENST00000416683.5:c.313+30C>T
ENST00000450053.7:c.1898+30C>T	ENSP00000415034.2:n.1898+30C>T
NM_015175.2:c.1898+30C>T , LRG_568t1:c.1898+30C>T	NP_055990.1:n.1898+30C>T
XM_005264992.2:c.1796+30C>T	XP_005265049.1:n.1796+30C>T
XM_006713072.2:c.1817+30C>T	XP_006713135.1:n.1817+30C>T
XM_011533532.1:c.1877+30C>T	XP_011531834.1:n.1877+30C>T
XM_011533533.1:c.1898+30C>T	XP_011531835.1:n.1898+30C>T
XM_011533534.1:c.1529+30C>T	XP_011531836.1:n.1529+30C>T
XM_011533535.1:c.1358+30C>T	XP_011531837.1:n.1358+30C>T
XM_011533536.1:c.1244+30C>T	XP_011531838.1:n.1244+30C>T
XM_011533537.1:c.806+30C>T	XP_011531839.1:n.806+30C>T
XR_940397.1:n.2074+30C>T
XR_940398.1:n.2074+30C>T
NM_001365116.1:c.1796+30C>T	NP_001352045.1:n.1796+30C>T
XM_006713072.3:c.1817+30C>T	XP_006713135.1:n.1817+30C>T
XM_011533533.2:c.1898+30C>T	XP_011531835.1:n.1898+30C>T
XM_017006010.1:c.1898+30C>T	XP_016861499.1:n.1898+30C>T
XM_017006011.1:c.1877+30C>T	XP_016861500.1:n.1877+30C>T
XM_017006012.1:c.1817+30C>T	XP_016861501.1:n.1817+30C>T
XM_017006013.1:c.1898+30C>T	XP_016861502.1:n.1898+30C>T
XM_017006014.1:c.1796+30C>T	XP_016861503.1:n.1796+30C>T
XM_017006015.1:c.1529+30C>T	XP_016861504.1:n.1529+30C>T
XM_017006016.1:c.1358+30C>T	XP_016861505.1:n.1358+30C>T
XR_940397.2:n.2074+30C>T
NM_001365116.2:c.1796+30C>T	NP_001352045.1:n.1796+30C>T
NM_015175.3:c.1898+30C>T MANE Select	NP_055990.1:n.1898+30C>T