Canonical Allele Identifier: CA352516321

Gene: NBEAL2

Linked Data

• ClinVar Variation Id: 2290172
• ClinVar RCV Id: RCV002854185
• dbSNP Id: rs1359027328
• gnomAD v2: 3-47041492-C-A
• gnomAD v4: 3-47000002-C-A
• MyVariant Identifiers: chr3:g.47041492C>A (hg19) ; chr3:g.47000002C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000002C>A , CM000665.2:g.47000002C>A	GRCh38
NC_000003.11:g.47041492C>A , CM000665.1:g.47041492C>A	GRCh37
NC_000003.10:g.47016496C>A	NCBI36
NG_031914.1:g.25320C>A , LRG_568:g.25320C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.3903C>A MANE Select	ENSP00000415034.2:p.Ser1301Arg
ENST00000651747.1:c.3801C>A	ENSP00000499216.1:p.Ser1267Arg
ENST00000652744.1:n.240C>A
ENST00000416683.5:c.1960-194C>A
ENST00000450053.7:c.3903C>A	ENSP00000415034.2:p.Ser1301Arg
NM_015175.2:c.3903C>A , LRG_568t1:c.3903C>A	NP_055990.1:p.Ser1301Arg
XM_005264992.2:c.3801C>A	XP_005265049.1:p.Ser1267Arg
XM_005264993.2:c.375C>A	XP_005265050.1:p.Ser125Arg
XM_006713072.2:c.3822C>A	XP_006713135.1:p.Ser1274Arg
XM_011533532.1:c.3882C>A	XP_011531834.1:p.Ser1294Arg
XM_011533533.1:c.3903C>A	XP_011531835.1:p.Ser1301Arg
XM_011533534.1:c.3534C>A	XP_011531836.1:p.Ser1178Arg
XM_011533535.1:c.3363C>A	XP_011531837.1:p.Ser1121Arg
XM_011533536.1:c.3249C>A	XP_011531838.1:p.Ser1083Arg
XM_011533537.1:c.2811C>A	XP_011531839.1:p.Ser937Arg
XR_940397.1:n.4079C>A
XR_940398.1:n.4079C>A
NM_001365116.1:c.3801C>A	NP_001352045.1:p.Ser1267Arg
XM_006713072.3:c.3822C>A	XP_006713135.1:p.Ser1274Arg
XM_011533533.2:c.3903C>A	XP_011531835.1:p.Ser1301Arg
XM_017006010.1:c.3903C>A	XP_016861499.1:p.Ser1301Arg
XM_017006011.1:c.3882C>A	XP_016861500.1:p.Ser1294Arg
XM_017006012.1:c.3822C>A	XP_016861501.1:p.Ser1274Arg
XM_017006013.1:c.3903C>A	XP_016861502.1:p.Ser1301Arg
XM_017006014.1:c.3801C>A	XP_016861503.1:p.Ser1267Arg
XM_017006015.1:c.3534C>A	XP_016861504.1:p.Ser1178Arg
XM_017006016.1:c.3363C>A	XP_016861505.1:p.Ser1121Arg
XM_017006017.1:c.375C>A	XP_016861506.1:p.Ser125Arg
XR_940397.2:n.4079C>A
NM_001365116.2:c.3801C>A	NP_001352045.1:p.Ser1267Arg
NM_015175.3:c.3903C>A MANE Select	NP_055990.1:p.Ser1301Arg