Canonical Allele Identifier: CA352517278

Gene: NBEAL2

Linked Data

• dbSNP Id: rs1170856644
• gnomAD v2: 3-47041863-G-T
• MyVariant Identifiers: chr3:g.47041863G>T (hg19) ; chr3:g.47000373G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000373G>T , CM000665.2:g.47000373G>T	GRCh38
NC_000003.11:g.47041863G>T , CM000665.1:g.47041863G>T	GRCh37
NC_000003.10:g.47016867G>T	NCBI36
NG_031914.1:g.25691G>T , LRG_568:g.25691G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.4274G>T MANE Select	ENSP00000415034.2:p.Gly1425Val
ENST00000651747.1:c.4172G>T	ENSP00000499216.1:p.Gly1391Val
ENST00000416683.5:c.2137G>T
ENST00000450053.7:c.4274G>T	ENSP00000415034.2:p.Gly1425Val
NM_015175.2:c.4274G>T , LRG_568t1:c.4274G>T	NP_055990.1:p.Gly1425Val
XM_005264992.2:c.4172G>T	XP_005265049.1:p.Gly1391Val
XM_005264993.2:c.746G>T	XP_005265050.1:p.Gly249Val
XM_006713072.2:c.4193G>T	XP_006713135.1:p.Gly1398Val
XM_011533532.1:c.4253G>T	XP_011531834.1:p.Gly1418Val
XM_011533533.1:c.4274G>T	XP_011531835.1:p.Gly1425Val
XM_011533534.1:c.3905G>T	XP_011531836.1:p.Gly1302Val
XM_011533535.1:c.3734G>T	XP_011531837.1:p.Gly1245Val
XM_011533536.1:c.3620G>T	XP_011531838.1:p.Gly1207Val
XM_011533537.1:c.3182G>T	XP_011531839.1:p.Gly1061Val
XR_940397.1:n.4450G>T
XR_940398.1:n.4450G>T
NM_001365116.1:c.4172G>T	NP_001352045.1:p.Gly1391Val
XM_006713072.3:c.4193G>T	XP_006713135.1:p.Gly1398Val
XM_011533533.2:c.4274G>T	XP_011531835.1:p.Gly1425Val
XM_017006010.1:c.4274G>T	XP_016861499.1:p.Gly1425Val
XM_017006011.1:c.4253G>T	XP_016861500.1:p.Gly1418Val
XM_017006012.1:c.4193G>T	XP_016861501.1:p.Gly1398Val
XM_017006013.1:c.4274G>T	XP_016861502.1:p.Gly1425Val
XM_017006014.1:c.4172G>T	XP_016861503.1:p.Gly1391Val
XM_017006015.1:c.3905G>T	XP_016861504.1:p.Gly1302Val
XM_017006016.1:c.3734G>T	XP_016861505.1:p.Gly1245Val
XM_017006017.1:c.746G>T	XP_016861506.1:p.Gly249Val
XR_940397.2:n.4450G>T
NM_001365116.2:c.4172G>T	NP_001352045.1:p.Gly1391Val
NM_015175.3:c.4274G>T MANE Select	NP_055990.1:p.Gly1425Val