Canonical Allele Identifier: CA352516876

Gene: NBEAL2

Linked Data

• ClinVar Variation Id: 435928
• ClinVar RCV Id: RCV000500436 ; RCV003403169
• dbSNP Id: rs1553663498
• gnomAD v4: 3-47000180-G-T
• MyVariant Identifiers: chr3:g.47041670G>T (hg19) ; chr3:g.47000180G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000180G>T , CM000665.2:g.47000180G>T	GRCh38
NC_000003.11:g.47041670G>T , CM000665.1:g.47041670G>T	GRCh37
NC_000003.10:g.47016674G>T	NCBI36
NG_031914.1:g.25498G>T , LRG_568:g.25498G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.4081G>T MANE Select	ENSP00000415034.2:p.Glu1361Ter
ENST00000651747.1:c.3979G>T	ENSP00000499216.1:p.Glu1327Ter
ENST00000652744.1:n.418G>T
ENST00000416683.5:c.1960-16G>T
ENST00000450053.7:c.4081G>T	ENSP00000415034.2:p.Glu1361Ter
NM_015175.2:c.4081G>T , LRG_568t1:c.4081G>T	NP_055990.1:p.Glu1361Ter
XM_005264992.2:c.3979G>T	XP_005265049.1:p.Glu1327Ter
XM_005264993.2:c.553G>T	XP_005265050.1:p.Glu185Ter
XM_006713072.2:c.4000G>T	XP_006713135.1:p.Glu1334Ter
XM_011533532.1:c.4060G>T	XP_011531834.1:p.Glu1354Ter
XM_011533533.1:c.4081G>T	XP_011531835.1:p.Glu1361Ter
XM_011533534.1:c.3712G>T	XP_011531836.1:p.Glu1238Ter
XM_011533535.1:c.3541G>T	XP_011531837.1:p.Glu1181Ter
XM_011533536.1:c.3427G>T	XP_011531838.1:p.Glu1143Ter
XM_011533537.1:c.2989G>T	XP_011531839.1:p.Glu997Ter
XR_940397.1:n.4257G>T
XR_940398.1:n.4257G>T
NM_001365116.1:c.3979G>T	NP_001352045.1:p.Glu1327Ter
XM_006713072.3:c.4000G>T	XP_006713135.1:p.Glu1334Ter
XM_011533533.2:c.4081G>T	XP_011531835.1:p.Glu1361Ter
XM_017006010.1:c.4081G>T	XP_016861499.1:p.Glu1361Ter
XM_017006011.1:c.4060G>T	XP_016861500.1:p.Glu1354Ter
XM_017006012.1:c.4000G>T	XP_016861501.1:p.Glu1334Ter
XM_017006013.1:c.4081G>T	XP_016861502.1:p.Glu1361Ter
XM_017006014.1:c.3979G>T	XP_016861503.1:p.Glu1327Ter
XM_017006015.1:c.3712G>T	XP_016861504.1:p.Glu1238Ter
XM_017006016.1:c.3541G>T	XP_016861505.1:p.Glu1181Ter
XM_017006017.1:c.553G>T	XP_016861506.1:p.Glu185Ter
XR_940397.2:n.4257G>T
NM_001365116.2:c.3979G>T	NP_001352045.1:p.Glu1327Ter
NM_015175.3:c.4081G>T MANE Select	NP_055990.1:p.Glu1361Ter