Canonical Allele Identifier: CA352517188

Gene: NBEAL2

Linked Data

• MyVariant Identifiers: chr3:g.47041830A>T (hg19) ; chr3:g.47000340A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000340A>T , CM000665.2:g.47000340A>T	GRCh38
NC_000003.11:g.47041830A>T , CM000665.1:g.47041830A>T	GRCh37
NC_000003.10:g.47016834A>T	NCBI36
NG_031914.1:g.25658A>T , LRG_568:g.25658A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.4241A>T MANE Select	ENSP00000415034.2:p.Glu1414Val
ENST00000651747.1:c.4139A>T	ENSP00000499216.1:p.Glu1380Val
ENST00000416683.5:c.2104A>T
ENST00000450053.7:c.4241A>T	ENSP00000415034.2:p.Glu1414Val
NM_015175.2:c.4241A>T , LRG_568t1:c.4241A>T	NP_055990.1:p.Glu1414Val
XM_005264992.2:c.4139A>T	XP_005265049.1:p.Glu1380Val
XM_005264993.2:c.713A>T	XP_005265050.1:p.Glu238Val
XM_006713072.2:c.4160A>T	XP_006713135.1:p.Glu1387Val
XM_011533532.1:c.4220A>T	XP_011531834.1:p.Glu1407Val
XM_011533533.1:c.4241A>T	XP_011531835.1:p.Glu1414Val
XM_011533534.1:c.3872A>T	XP_011531836.1:p.Glu1291Val
XM_011533535.1:c.3701A>T	XP_011531837.1:p.Glu1234Val
XM_011533536.1:c.3587A>T	XP_011531838.1:p.Glu1196Val
XM_011533537.1:c.3149A>T	XP_011531839.1:p.Glu1050Val
XR_940397.1:n.4417A>T
XR_940398.1:n.4417A>T
NM_001365116.1:c.4139A>T	NP_001352045.1:p.Glu1380Val
XM_006713072.3:c.4160A>T	XP_006713135.1:p.Glu1387Val
XM_011533533.2:c.4241A>T	XP_011531835.1:p.Glu1414Val
XM_017006010.1:c.4241A>T	XP_016861499.1:p.Glu1414Val
XM_017006011.1:c.4220A>T	XP_016861500.1:p.Glu1407Val
XM_017006012.1:c.4160A>T	XP_016861501.1:p.Glu1387Val
XM_017006013.1:c.4241A>T	XP_016861502.1:p.Glu1414Val
XM_017006014.1:c.4139A>T	XP_016861503.1:p.Glu1380Val
XM_017006015.1:c.3872A>T	XP_016861504.1:p.Glu1291Val
XM_017006016.1:c.3701A>T	XP_016861505.1:p.Glu1234Val
XM_017006017.1:c.713A>T	XP_016861506.1:p.Glu238Val
XR_940397.2:n.4417A>T
NM_001365116.2:c.4139A>T	NP_001352045.1:p.Glu1380Val
NM_015175.3:c.4241A>T MANE Select	NP_055990.1:p.Glu1414Val