Canonical Allele Identifier: CA2361189

Gene: NBEAL2

Linked Data

• dbSNP Id: rs545294552
• ExAC: 3:47041851 C / A
• gnomAD v2: 3-47041851-C-A
• gnomAD v3: 3-47000361-C-A
• gnomAD v4: 3-47000361-C-A
• MyVariant Identifiers: chr3:g.47041851C>A (hg19) ; chr3:g.47000361C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000361C>A , CM000665.2:g.47000361C>A	GRCh38
NC_000003.11:g.47041851C>A , CM000665.1:g.47041851C>A	GRCh37
NC_000003.10:g.47016855C>A	NCBI36
NG_031914.1:g.25679C>A , LRG_568:g.25679C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.4262C>A MANE Select	ENSP00000415034.2:p.Pro1421His
ENST00000651747.1:c.4160C>A	ENSP00000499216.1:p.Pro1387His
ENST00000416683.5:c.2125C>A
ENST00000450053.7:c.4262C>A	ENSP00000415034.2:p.Pro1421His
NM_015175.2:c.4262C>A , LRG_568t1:c.4262C>A	NP_055990.1:p.Pro1421His
XM_005264992.2:c.4160C>A	XP_005265049.1:p.Pro1387His
XM_005264993.2:c.734C>A	XP_005265050.1:p.Pro245His
XM_006713072.2:c.4181C>A	XP_006713135.1:p.Pro1394His
XM_011533532.1:c.4241C>A	XP_011531834.1:p.Pro1414His
XM_011533533.1:c.4262C>A	XP_011531835.1:p.Pro1421His
XM_011533534.1:c.3893C>A	XP_011531836.1:p.Pro1298His
XM_011533535.1:c.3722C>A	XP_011531837.1:p.Pro1241His
XM_011533536.1:c.3608C>A	XP_011531838.1:p.Pro1203His
XM_011533537.1:c.3170C>A	XP_011531839.1:p.Pro1057His
XR_940397.1:n.4438C>A
XR_940398.1:n.4438C>A
NM_001365116.1:c.4160C>A	NP_001352045.1:p.Pro1387His
XM_006713072.3:c.4181C>A	XP_006713135.1:p.Pro1394His
XM_011533533.2:c.4262C>A	XP_011531835.1:p.Pro1421His
XM_017006010.1:c.4262C>A	XP_016861499.1:p.Pro1421His
XM_017006011.1:c.4241C>A	XP_016861500.1:p.Pro1414His
XM_017006012.1:c.4181C>A	XP_016861501.1:p.Pro1394His
XM_017006013.1:c.4262C>A	XP_016861502.1:p.Pro1421His
XM_017006014.1:c.4160C>A	XP_016861503.1:p.Pro1387His
XM_017006015.1:c.3893C>A	XP_016861504.1:p.Pro1298His
XM_017006016.1:c.3722C>A	XP_016861505.1:p.Pro1241His
XM_017006017.1:c.734C>A	XP_016861506.1:p.Pro245His
XR_940397.2:n.4438C>A
NM_001365116.2:c.4160C>A	NP_001352045.1:p.Pro1387His
NM_015175.3:c.4262C>A MANE Select	NP_055990.1:p.Pro1421His