Canonical Allele Identifier: CA2361155

Gene: NBEAL2

Linked Data

• dbSNP Id: rs145928108
• ExAC: 3:47041747 C / A
• gnomAD v2: 3-47041747-C-A
• gnomAD v3: 3-47000257-C-A
• gnomAD v4: 3-47000257-C-A
• MyVariant Identifiers: chr3:g.47041747C>A (hg19) ; chr3:g.47000257C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000257C>A , CM000665.2:g.47000257C>A	GRCh38
NC_000003.11:g.47041747C>A , CM000665.1:g.47041747C>A	GRCh37
NC_000003.10:g.47016751C>A	NCBI36
NG_031914.1:g.25575C>A , LRG_568:g.25575C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.4158C>A MANE Select	ENSP00000415034.2:p.Pro1386=
ENST00000651747.1:c.4056C>A	ENSP00000499216.1:p.Pro1352=
ENST00000416683.5:c.2021C>A
ENST00000450053.7:c.4158C>A	ENSP00000415034.2:p.Pro1386=
NM_015175.2:c.4158C>A , LRG_568t1:c.4158C>A	NP_055990.1:p.Pro1386=
XM_005264992.2:c.4056C>A	XP_005265049.1:p.Pro1352=
XM_005264993.2:c.630C>A	XP_005265050.1:p.Pro210=
XM_006713072.2:c.4077C>A	XP_006713135.1:p.Pro1359=
XM_011533532.1:c.4137C>A	XP_011531834.1:p.Pro1379=
XM_011533533.1:c.4158C>A	XP_011531835.1:p.Pro1386=
XM_011533534.1:c.3789C>A	XP_011531836.1:p.Pro1263=
XM_011533535.1:c.3618C>A	XP_011531837.1:p.Pro1206=
XM_011533536.1:c.3504C>A	XP_011531838.1:p.Pro1168=
XM_011533537.1:c.3066C>A	XP_011531839.1:p.Pro1022=
XR_940397.1:n.4334C>A
XR_940398.1:n.4334C>A
NM_001365116.1:c.4056C>A	NP_001352045.1:p.Pro1352=
XM_006713072.3:c.4077C>A	XP_006713135.1:p.Pro1359=
XM_011533533.2:c.4158C>A	XP_011531835.1:p.Pro1386=
XM_017006010.1:c.4158C>A	XP_016861499.1:p.Pro1386=
XM_017006011.1:c.4137C>A	XP_016861500.1:p.Pro1379=
XM_017006012.1:c.4077C>A	XP_016861501.1:p.Pro1359=
XM_017006013.1:c.4158C>A	XP_016861502.1:p.Pro1386=
XM_017006014.1:c.4056C>A	XP_016861503.1:p.Pro1352=
XM_017006015.1:c.3789C>A	XP_016861504.1:p.Pro1263=
XM_017006016.1:c.3618C>A	XP_016861505.1:p.Pro1206=
XM_017006017.1:c.630C>A	XP_016861506.1:p.Pro210=
XR_940397.2:n.4334C>A
NM_001365116.2:c.4056C>A	NP_001352045.1:p.Pro1352=
NM_015175.3:c.4158C>A MANE Select	NP_055990.1:p.Pro1386=