Canonical Allele Identifier: CA352516802

Gene: NBEAL2

Linked Data

• gnomAD v4: 3-47000145-T-A
• MyVariant Identifiers: chr3:g.47041635T>A (hg19) ; chr3:g.47000145T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000145T>A , CM000665.2:g.47000145T>A	GRCh38
NC_000003.11:g.47041635T>A , CM000665.1:g.47041635T>A	GRCh37
NC_000003.10:g.47016639T>A	NCBI36
NG_031914.1:g.25463T>A , LRG_568:g.25463T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.4046T>A MANE Select	ENSP00000415034.2:p.Leu1349His
ENST00000651747.1:c.3944T>A	ENSP00000499216.1:p.Leu1315His
ENST00000652744.1:n.383T>A
ENST00000416683.5:c.1960-51T>A
ENST00000450053.7:c.4046T>A	ENSP00000415034.2:p.Leu1349His
NM_015175.2:c.4046T>A , LRG_568t1:c.4046T>A	NP_055990.1:p.Leu1349His
XM_005264992.2:c.3944T>A	XP_005265049.1:p.Leu1315His
XM_005264993.2:c.518T>A	XP_005265050.1:p.Leu173His
XM_006713072.2:c.3965T>A	XP_006713135.1:p.Leu1322His
XM_011533532.1:c.4025T>A	XP_011531834.1:p.Leu1342His
XM_011533533.1:c.4046T>A	XP_011531835.1:p.Leu1349His
XM_011533534.1:c.3677T>A	XP_011531836.1:p.Leu1226His
XM_011533535.1:c.3506T>A	XP_011531837.1:p.Leu1169His
XM_011533536.1:c.3392T>A	XP_011531838.1:p.Leu1131His
XM_011533537.1:c.2954T>A	XP_011531839.1:p.Leu985His
XR_940397.1:n.4222T>A
XR_940398.1:n.4222T>A
NM_001365116.1:c.3944T>A	NP_001352045.1:p.Leu1315His
XM_006713072.3:c.3965T>A	XP_006713135.1:p.Leu1322His
XM_011533533.2:c.4046T>A	XP_011531835.1:p.Leu1349His
XM_017006010.1:c.4046T>A	XP_016861499.1:p.Leu1349His
XM_017006011.1:c.4025T>A	XP_016861500.1:p.Leu1342His
XM_017006012.1:c.3965T>A	XP_016861501.1:p.Leu1322His
XM_017006013.1:c.4046T>A	XP_016861502.1:p.Leu1349His
XM_017006014.1:c.3944T>A	XP_016861503.1:p.Leu1315His
XM_017006015.1:c.3677T>A	XP_016861504.1:p.Leu1226His
XM_017006016.1:c.3506T>A	XP_016861505.1:p.Leu1169His
XM_017006017.1:c.518T>A	XP_016861506.1:p.Leu173His
XR_940397.2:n.4222T>A
NM_001365116.2:c.3944T>A	NP_001352045.1:p.Leu1315His
NM_015175.3:c.4046T>A MANE Select	NP_055990.1:p.Leu1349His