Canonical Allele Identifier: CA352508623

Gene: NBEAL2

Linked Data

• ClinVar Variation Id: 435927
• ClinVar RCV Id: RCV000503824
• dbSNP Id: rs1553659758
• MyVariant Identifiers: chr3:g.47037018G>A (hg19) ; chr3:g.46995528G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46995528G>A , CM000665.2:g.46995528G>A	GRCh38
NC_000003.11:g.47037018G>A , CM000665.1:g.47037018G>A	GRCh37
NC_000003.10:g.47012022G>A	NCBI36
NG_031914.1:g.20846G>A , LRG_568:g.20846G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.1793G>A MANE Select	ENSP00000415034.2:p.Trp598Ter
ENST00000651747.1:c.1691G>A	ENSP00000499216.1:p.Trp564Ter
ENST00000416683.5:c.208G>A
ENST00000450053.7:c.1793G>A	ENSP00000415034.2:p.Trp598Ter
NM_015175.2:c.1793G>A , LRG_568t1:c.1793G>A	NP_055990.1:p.Trp598Ter
XM_005264992.2:c.1691G>A	XP_005265049.1:p.Trp564Ter
XM_006713072.2:c.1712G>A	XP_006713135.1:p.Trp571Ter
XM_011533532.1:c.1772G>A	XP_011531834.1:p.Trp591Ter
XM_011533533.1:c.1793G>A	XP_011531835.1:p.Trp598Ter
XM_011533534.1:c.1424G>A	XP_011531836.1:p.Trp475Ter
XM_011533535.1:c.1253G>A	XP_011531837.1:p.Trp418Ter
XM_011533536.1:c.1139G>A	XP_011531838.1:p.Trp380Ter
XM_011533537.1:c.701G>A	XP_011531839.1:p.Trp234Ter
XR_940397.1:n.1969G>A
XR_940398.1:n.1969G>A
NM_001365116.1:c.1691G>A	NP_001352045.1:p.Trp564Ter
XM_006713072.3:c.1712G>A	XP_006713135.1:p.Trp571Ter
XM_011533533.2:c.1793G>A	XP_011531835.1:p.Trp598Ter
XM_017006010.1:c.1793G>A	XP_016861499.1:p.Trp598Ter
XM_017006011.1:c.1772G>A	XP_016861500.1:p.Trp591Ter
XM_017006012.1:c.1712G>A	XP_016861501.1:p.Trp571Ter
XM_017006013.1:c.1793G>A	XP_016861502.1:p.Trp598Ter
XM_017006014.1:c.1691G>A	XP_016861503.1:p.Trp564Ter
XM_017006015.1:c.1424G>A	XP_016861504.1:p.Trp475Ter
XM_017006016.1:c.1253G>A	XP_016861505.1:p.Trp418Ter
XR_940397.2:n.1969G>A
NM_001365116.2:c.1691G>A	NP_001352045.1:p.Trp564Ter
NM_015175.3:c.1793G>A MANE Select	NP_055990.1:p.Trp598Ter