Canonical Allele Identifier: CA352517202

Gene: NBEAL2

Linked Data

• gnomAD v4: 3-47000346-G-A
• COSMIC: COSM4117956 ; COSM4117957
• MyVariant Identifiers: chr3:g.47041836G>A (hg19) ; chr3:g.47000346G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000346G>A , CM000665.2:g.47000346G>A	GRCh38
NC_000003.11:g.47041836G>A , CM000665.1:g.47041836G>A	GRCh37
NC_000003.10:g.47016840G>A	NCBI36
NG_031914.1:g.25664G>A , LRG_568:g.25664G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.4247G>A MANE Select	ENSP00000415034.2:p.Gly1416Asp
ENST00000651747.1:c.4145G>A	ENSP00000499216.1:p.Gly1382Asp
ENST00000416683.5:c.2110G>A
ENST00000450053.7:c.4247G>A	ENSP00000415034.2:p.Gly1416Asp
NM_015175.2:c.4247G>A , LRG_568t1:c.4247G>A	NP_055990.1:p.Gly1416Asp
XM_005264992.2:c.4145G>A	XP_005265049.1:p.Gly1382Asp
XM_005264993.2:c.719G>A	XP_005265050.1:p.Gly240Asp
XM_006713072.2:c.4166G>A	XP_006713135.1:p.Gly1389Asp
XM_011533532.1:c.4226G>A	XP_011531834.1:p.Gly1409Asp
XM_011533533.1:c.4247G>A	XP_011531835.1:p.Gly1416Asp
XM_011533534.1:c.3878G>A	XP_011531836.1:p.Gly1293Asp
XM_011533535.1:c.3707G>A	XP_011531837.1:p.Gly1236Asp
XM_011533536.1:c.3593G>A	XP_011531838.1:p.Gly1198Asp
XM_011533537.1:c.3155G>A	XP_011531839.1:p.Gly1052Asp
XR_940397.1:n.4423G>A
XR_940398.1:n.4423G>A
NM_001365116.1:c.4145G>A	NP_001352045.1:p.Gly1382Asp
XM_006713072.3:c.4166G>A	XP_006713135.1:p.Gly1389Asp
XM_011533533.2:c.4247G>A	XP_011531835.1:p.Gly1416Asp
XM_017006010.1:c.4247G>A	XP_016861499.1:p.Gly1416Asp
XM_017006011.1:c.4226G>A	XP_016861500.1:p.Gly1409Asp
XM_017006012.1:c.4166G>A	XP_016861501.1:p.Gly1389Asp
XM_017006013.1:c.4247G>A	XP_016861502.1:p.Gly1416Asp
XM_017006014.1:c.4145G>A	XP_016861503.1:p.Gly1382Asp
XM_017006015.1:c.3878G>A	XP_016861504.1:p.Gly1293Asp
XM_017006016.1:c.3707G>A	XP_016861505.1:p.Gly1236Asp
XM_017006017.1:c.719G>A	XP_016861506.1:p.Gly240Asp
XR_940397.2:n.4423G>A
NM_001365116.2:c.4145G>A	NP_001352045.1:p.Gly1382Asp
NM_015175.3:c.4247G>A MANE Select	NP_055990.1:p.Gly1416Asp