Canonical Allele Identifier: CA352516605

Gene: NBEAL2

Linked Data

• MyVariant Identifiers: chr3:g.47041563C>A (hg19) ; chr3:g.47000073C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000073C>A , CM000665.2:g.47000073C>A	GRCh38
NC_000003.11:g.47041563C>A , CM000665.1:g.47041563C>A	GRCh37
NC_000003.10:g.47016567C>A	NCBI36
NG_031914.1:g.25391C>A , LRG_568:g.25391C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.3974C>A MANE Select	ENSP00000415034.2:p.Pro1325His
ENST00000651747.1:c.3872C>A	ENSP00000499216.1:p.Pro1291His
ENST00000652744.1:n.311C>A
ENST00000416683.5:c.1960-123C>A
ENST00000450053.7:c.3974C>A	ENSP00000415034.2:p.Pro1325His
NM_015175.2:c.3974C>A , LRG_568t1:c.3974C>A	NP_055990.1:p.Pro1325His
XM_005264992.2:c.3872C>A	XP_005265049.1:p.Pro1291His
XM_005264993.2:c.446C>A	XP_005265050.1:p.Pro149His
XM_006713072.2:c.3893C>A	XP_006713135.1:p.Pro1298His
XM_011533532.1:c.3953C>A	XP_011531834.1:p.Pro1318His
XM_011533533.1:c.3974C>A	XP_011531835.1:p.Pro1325His
XM_011533534.1:c.3605C>A	XP_011531836.1:p.Pro1202His
XM_011533535.1:c.3434C>A	XP_011531837.1:p.Pro1145His
XM_011533536.1:c.3320C>A	XP_011531838.1:p.Pro1107His
XM_011533537.1:c.2882C>A	XP_011531839.1:p.Pro961His
XR_940397.1:n.4150C>A
XR_940398.1:n.4150C>A
NM_001365116.1:c.3872C>A	NP_001352045.1:p.Pro1291His
XM_006713072.3:c.3893C>A	XP_006713135.1:p.Pro1298His
XM_011533533.2:c.3974C>A	XP_011531835.1:p.Pro1325His
XM_017006010.1:c.3974C>A	XP_016861499.1:p.Pro1325His
XM_017006011.1:c.3953C>A	XP_016861500.1:p.Pro1318His
XM_017006012.1:c.3893C>A	XP_016861501.1:p.Pro1298His
XM_017006013.1:c.3974C>A	XP_016861502.1:p.Pro1325His
XM_017006014.1:c.3872C>A	XP_016861503.1:p.Pro1291His
XM_017006015.1:c.3605C>A	XP_016861504.1:p.Pro1202His
XM_017006016.1:c.3434C>A	XP_016861505.1:p.Pro1145His
XM_017006017.1:c.446C>A	XP_016861506.1:p.Pro149His
XR_940397.2:n.4150C>A
NM_001365116.2:c.3872C>A	NP_001352045.1:p.Pro1291His
NM_015175.3:c.3974C>A MANE Select	NP_055990.1:p.Pro1325His