Canonical Allele Identifier: CA352517326

Gene: NBEAL2

Linked Data

• dbSNP Id: rs1447696737
• gnomAD v2: 3-47041872-C-A
• gnomAD v4: 3-47000382-C-A
• MyVariant Identifiers: chr3:g.47041872C>A (hg19) ; chr3:g.47000382C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000382C>A , CM000665.2:g.47000382C>A	GRCh38
NC_000003.11:g.47041872C>A , CM000665.1:g.47041872C>A	GRCh37
NC_000003.10:g.47016876C>A	NCBI36
NG_031914.1:g.25700C>A , LRG_568:g.25700C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.4283C>A MANE Select	ENSP00000415034.2:p.Thr1428Asn
ENST00000651747.1:c.4181C>A	ENSP00000499216.1:p.Thr1394Asn
ENST00000416683.5:c.2146C>A
ENST00000450053.7:c.4283C>A	ENSP00000415034.2:p.Thr1428Asn
NM_015175.2:c.4283C>A , LRG_568t1:c.4283C>A	NP_055990.1:p.Thr1428Asn
XM_005264992.2:c.4181C>A	XP_005265049.1:p.Thr1394Asn
XM_005264993.2:c.755C>A	XP_005265050.1:p.Thr252Asn
XM_006713072.2:c.4202C>A	XP_006713135.1:p.Thr1401Asn
XM_011533532.1:c.4262C>A	XP_011531834.1:p.Thr1421Asn
XM_011533533.1:c.4283C>A	XP_011531835.1:p.Thr1428Asn
XM_011533534.1:c.3914C>A	XP_011531836.1:p.Thr1305Asn
XM_011533535.1:c.3743C>A	XP_011531837.1:p.Thr1248Asn
XM_011533536.1:c.3629C>A	XP_011531838.1:p.Thr1210Asn
XM_011533537.1:c.3191C>A	XP_011531839.1:p.Thr1064Asn
XR_940397.1:n.4459C>A
XR_940398.1:n.4459C>A
NM_001365116.1:c.4181C>A	NP_001352045.1:p.Thr1394Asn
XM_006713072.3:c.4202C>A	XP_006713135.1:p.Thr1401Asn
XM_011533533.2:c.4283C>A	XP_011531835.1:p.Thr1428Asn
XM_017006010.1:c.4283C>A	XP_016861499.1:p.Thr1428Asn
XM_017006011.1:c.4262C>A	XP_016861500.1:p.Thr1421Asn
XM_017006012.1:c.4202C>A	XP_016861501.1:p.Thr1401Asn
XM_017006013.1:c.4283C>A	XP_016861502.1:p.Thr1428Asn
XM_017006014.1:c.4181C>A	XP_016861503.1:p.Thr1394Asn
XM_017006015.1:c.3914C>A	XP_016861504.1:p.Thr1305Asn
XM_017006016.1:c.3743C>A	XP_016861505.1:p.Thr1248Asn
XM_017006017.1:c.755C>A	XP_016861506.1:p.Thr252Asn
XR_940397.2:n.4459C>A
NM_001365116.2:c.4181C>A	NP_001352045.1:p.Thr1394Asn
NM_015175.3:c.4283C>A MANE Select	NP_055990.1:p.Thr1428Asn