Canonical Allele Identifier: CA2360477

Gene: NBEAL2

Linked Data

• dbSNP Id: rs757119234
• ExAC: 3:47037140 G / A
• gnomAD v2: 3-47037140-G-A
• gnomAD v3: 3-46995650-G-A
• gnomAD v4: 3-46995650-G-A
• MyVariant Identifiers: chr3:g.47037140G>A (hg19) ; chr3:g.46995650G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46995650G>A , CM000665.2:g.46995650G>A	GRCh38
NC_000003.11:g.47037140G>A , CM000665.1:g.47037140G>A	GRCh37
NC_000003.10:g.47012144G>A	NCBI36
NG_031914.1:g.20968G>A , LRG_568:g.20968G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000450053.8:c.1898+17G>A MANE Select	ENSP00000415034.2:n.1898+17G>A
ENST00000651747.1:c.1796+17G>A	ENSP00000499216.1:n.1796+17G>A
ENST00000416683.5:c.313+17G>A
ENST00000450053.7:c.1898+17G>A	ENSP00000415034.2:n.1898+17G>A
NM_015175.2:c.1898+17G>A , LRG_568t1:c.1898+17G>A	NP_055990.1:n.1898+17G>A
XM_005264992.2:c.1796+17G>A	XP_005265049.1:n.1796+17G>A
XM_006713072.2:c.1817+17G>A	XP_006713135.1:n.1817+17G>A
XM_011533532.1:c.1877+17G>A	XP_011531834.1:n.1877+17G>A
XM_011533533.1:c.1898+17G>A	XP_011531835.1:n.1898+17G>A
XM_011533534.1:c.1529+17G>A	XP_011531836.1:n.1529+17G>A
XM_011533535.1:c.1358+17G>A	XP_011531837.1:n.1358+17G>A
XM_011533536.1:c.1244+17G>A	XP_011531838.1:n.1244+17G>A
XM_011533537.1:c.806+17G>A	XP_011531839.1:n.806+17G>A
XR_940397.1:n.2074+17G>A
XR_940398.1:n.2074+17G>A
NM_001365116.1:c.1796+17G>A	NP_001352045.1:n.1796+17G>A
XM_006713072.3:c.1817+17G>A	XP_006713135.1:n.1817+17G>A
XM_011533533.2:c.1898+17G>A	XP_011531835.1:n.1898+17G>A
XM_017006010.1:c.1898+17G>A	XP_016861499.1:n.1898+17G>A
XM_017006011.1:c.1877+17G>A	XP_016861500.1:n.1877+17G>A
XM_017006012.1:c.1817+17G>A	XP_016861501.1:n.1817+17G>A
XM_017006013.1:c.1898+17G>A	XP_016861502.1:n.1898+17G>A
XM_017006014.1:c.1796+17G>A	XP_016861503.1:n.1796+17G>A
XM_017006015.1:c.1529+17G>A	XP_016861504.1:n.1529+17G>A
XM_017006016.1:c.1358+17G>A	XP_016861505.1:n.1358+17G>A
XR_940397.2:n.2074+17G>A
NM_001365116.2:c.1796+17G>A	NP_001352045.1:n.1796+17G>A
NM_015175.3:c.1898+17G>A MANE Select	NP_055990.1:n.1898+17G>A