Canonical Allele Identifier: CA352516787

Gene: NBEAL2

Linked Data

• gnomAD v4: 3-47000138-C-G
• MyVariant Identifiers: chr3:g.47041628C>G (hg19) ; chr3:g.47000138C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000138C>G , CM000665.2:g.47000138C>G	GRCh38
NC_000003.11:g.47041628C>G , CM000665.1:g.47041628C>G	GRCh37
NC_000003.10:g.47016632C>G	NCBI36
NG_031914.1:g.25456C>G , LRG_568:g.25456C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.4039C>G MANE Select	ENSP00000415034.2:p.His1347Asp
ENST00000651747.1:c.3937C>G	ENSP00000499216.1:p.His1313Asp
ENST00000652744.1:n.376C>G
ENST00000416683.5:c.1960-58C>G
ENST00000450053.7:c.4039C>G	ENSP00000415034.2:p.His1347Asp
NM_015175.2:c.4039C>G , LRG_568t1:c.4039C>G	NP_055990.1:p.His1347Asp
XM_005264992.2:c.3937C>G	XP_005265049.1:p.His1313Asp
XM_005264993.2:c.511C>G	XP_005265050.1:p.His171Asp
XM_006713072.2:c.3958C>G	XP_006713135.1:p.His1320Asp
XM_011533532.1:c.4018C>G	XP_011531834.1:p.His1340Asp
XM_011533533.1:c.4039C>G	XP_011531835.1:p.His1347Asp
XM_011533534.1:c.3670C>G	XP_011531836.1:p.His1224Asp
XM_011533535.1:c.3499C>G	XP_011531837.1:p.His1167Asp
XM_011533536.1:c.3385C>G	XP_011531838.1:p.His1129Asp
XM_011533537.1:c.2947C>G	XP_011531839.1:p.His983Asp
XR_940397.1:n.4215C>G
XR_940398.1:n.4215C>G
NM_001365116.1:c.3937C>G	NP_001352045.1:p.His1313Asp
XM_006713072.3:c.3958C>G	XP_006713135.1:p.His1320Asp
XM_011533533.2:c.4039C>G	XP_011531835.1:p.His1347Asp
XM_017006010.1:c.4039C>G	XP_016861499.1:p.His1347Asp
XM_017006011.1:c.4018C>G	XP_016861500.1:p.His1340Asp
XM_017006012.1:c.3958C>G	XP_016861501.1:p.His1320Asp
XM_017006013.1:c.4039C>G	XP_016861502.1:p.His1347Asp
XM_017006014.1:c.3937C>G	XP_016861503.1:p.His1313Asp
XM_017006015.1:c.3670C>G	XP_016861504.1:p.His1224Asp
XM_017006016.1:c.3499C>G	XP_016861505.1:p.His1167Asp
XM_017006017.1:c.511C>G	XP_016861506.1:p.His171Asp
XR_940397.2:n.4215C>G
NM_001365116.2:c.3937C>G	NP_001352045.1:p.His1313Asp
NM_015175.3:c.4039C>G MANE Select	NP_055990.1:p.His1347Asp