Canonical Allele Identifier: CA352516701

Gene: NBEAL2

Linked Data

• MyVariant Identifiers: chr3:g.47041587T>G (hg19) ; chr3:g.47000097T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000097T>G , CM000665.2:g.47000097T>G	GRCh38
NC_000003.11:g.47041587T>G , CM000665.1:g.47041587T>G	GRCh37
NC_000003.10:g.47016591T>G	NCBI36
NG_031914.1:g.25415T>G , LRG_568:g.25415T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.3998T>G MANE Select	ENSP00000415034.2:p.Leu1333Arg
ENST00000651747.1:c.3896T>G	ENSP00000499216.1:p.Leu1299Arg
ENST00000652744.1:n.335T>G
ENST00000416683.5:c.1960-99T>G
ENST00000450053.7:c.3998T>G	ENSP00000415034.2:p.Leu1333Arg
NM_015175.2:c.3998T>G , LRG_568t1:c.3998T>G	NP_055990.1:p.Leu1333Arg
XM_005264992.2:c.3896T>G	XP_005265049.1:p.Leu1299Arg
XM_005264993.2:c.470T>G	XP_005265050.1:p.Leu157Arg
XM_006713072.2:c.3917T>G	XP_006713135.1:p.Leu1306Arg
XM_011533532.1:c.3977T>G	XP_011531834.1:p.Leu1326Arg
XM_011533533.1:c.3998T>G	XP_011531835.1:p.Leu1333Arg
XM_011533534.1:c.3629T>G	XP_011531836.1:p.Leu1210Arg
XM_011533535.1:c.3458T>G	XP_011531837.1:p.Leu1153Arg
XM_011533536.1:c.3344T>G	XP_011531838.1:p.Leu1115Arg
XM_011533537.1:c.2906T>G	XP_011531839.1:p.Leu969Arg
XR_940397.1:n.4174T>G
XR_940398.1:n.4174T>G
NM_001365116.1:c.3896T>G	NP_001352045.1:p.Leu1299Arg
XM_006713072.3:c.3917T>G	XP_006713135.1:p.Leu1306Arg
XM_011533533.2:c.3998T>G	XP_011531835.1:p.Leu1333Arg
XM_017006010.1:c.3998T>G	XP_016861499.1:p.Leu1333Arg
XM_017006011.1:c.3977T>G	XP_016861500.1:p.Leu1326Arg
XM_017006012.1:c.3917T>G	XP_016861501.1:p.Leu1306Arg
XM_017006013.1:c.3998T>G	XP_016861502.1:p.Leu1333Arg
XM_017006014.1:c.3896T>G	XP_016861503.1:p.Leu1299Arg
XM_017006015.1:c.3629T>G	XP_016861504.1:p.Leu1210Arg
XM_017006016.1:c.3458T>G	XP_016861505.1:p.Leu1153Arg
XM_017006017.1:c.470T>G	XP_016861506.1:p.Leu157Arg
XR_940397.2:n.4174T>G
NM_001365116.2:c.3896T>G	NP_001352045.1:p.Leu1299Arg
NM_015175.3:c.3998T>G MANE Select	NP_055990.1:p.Leu1333Arg