Canonical Allele Identifier: CA352516636

Gene: NBEAL2

Linked Data

• MyVariant Identifiers: chr3:g.47041568G>T (hg19) ; chr3:g.47000078G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000078G>T , CM000665.2:g.47000078G>T	GRCh38
NC_000003.11:g.47041568G>T , CM000665.1:g.47041568G>T	GRCh37
NC_000003.10:g.47016572G>T	NCBI36
NG_031914.1:g.25396G>T , LRG_568:g.25396G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.3979G>T MANE Select	ENSP00000415034.2:p.Glu1327Ter
ENST00000651747.1:c.3877G>T	ENSP00000499216.1:p.Glu1293Ter
ENST00000652744.1:n.316G>T
ENST00000416683.5:c.1960-118G>T
ENST00000450053.7:c.3979G>T	ENSP00000415034.2:p.Glu1327Ter
NM_015175.2:c.3979G>T , LRG_568t1:c.3979G>T	NP_055990.1:p.Glu1327Ter
XM_005264992.2:c.3877G>T	XP_005265049.1:p.Glu1293Ter
XM_005264993.2:c.451G>T	XP_005265050.1:p.Glu151Ter
XM_006713072.2:c.3898G>T	XP_006713135.1:p.Glu1300Ter
XM_011533532.1:c.3958G>T	XP_011531834.1:p.Glu1320Ter
XM_011533533.1:c.3979G>T	XP_011531835.1:p.Glu1327Ter
XM_011533534.1:c.3610G>T	XP_011531836.1:p.Glu1204Ter
XM_011533535.1:c.3439G>T	XP_011531837.1:p.Glu1147Ter
XM_011533536.1:c.3325G>T	XP_011531838.1:p.Glu1109Ter
XM_011533537.1:c.2887G>T	XP_011531839.1:p.Glu963Ter
XR_940397.1:n.4155G>T
XR_940398.1:n.4155G>T
NM_001365116.1:c.3877G>T	NP_001352045.1:p.Glu1293Ter
XM_006713072.3:c.3898G>T	XP_006713135.1:p.Glu1300Ter
XM_011533533.2:c.3979G>T	XP_011531835.1:p.Glu1327Ter
XM_017006010.1:c.3979G>T	XP_016861499.1:p.Glu1327Ter
XM_017006011.1:c.3958G>T	XP_016861500.1:p.Glu1320Ter
XM_017006012.1:c.3898G>T	XP_016861501.1:p.Glu1300Ter
XM_017006013.1:c.3979G>T	XP_016861502.1:p.Glu1327Ter
XM_017006014.1:c.3877G>T	XP_016861503.1:p.Glu1293Ter
XM_017006015.1:c.3610G>T	XP_016861504.1:p.Glu1204Ter
XM_017006016.1:c.3439G>T	XP_016861505.1:p.Glu1147Ter
XM_017006017.1:c.451G>T	XP_016861506.1:p.Glu151Ter
XR_940397.2:n.4155G>T
NM_001365116.2:c.3877G>T	NP_001352045.1:p.Glu1293Ter
NM_015175.3:c.3979G>T MANE Select	NP_055990.1:p.Glu1327Ter