Canonical Allele Identifier: CA433598309

Gene: NBEAL2

Linked Data

• MyVariant Identifiers: chr3:g.47041756T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000266T>A , CM000665.2:g.47000266T>A	GRCh38
NC_000003.11:g.47041756T>A , CM000665.1:g.47041756T>A	GRCh37
NC_000003.10:g.47016760T>A	NCBI36
NG_031914.1:g.25584T>A , LRG_568:g.25584T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.4167T>A MANE Select	ENSP00000415034.2:p.Pro1389=
ENST00000651747.1:c.4065T>A	ENSP00000499216.1:p.Pro1355=
ENST00000416683.5:c.2030T>A
ENST00000450053.7:c.4167T>A	ENSP00000415034.2:p.Pro1389=
NM_015175.2:c.4167T>A , LRG_568t1:c.4167T>A	NP_055990.1:p.Pro1389=
XM_005264992.2:c.4065T>A	XP_005265049.1:p.Pro1355=
XM_005264993.2:c.639T>A	XP_005265050.1:p.Pro213=
XM_006713072.2:c.4086T>A	XP_006713135.1:p.Pro1362=
XM_011533532.1:c.4146T>A	XP_011531834.1:p.Pro1382=
XM_011533533.1:c.4167T>A	XP_011531835.1:p.Pro1389=
XM_011533534.1:c.3798T>A	XP_011531836.1:p.Pro1266=
XM_011533535.1:c.3627T>A	XP_011531837.1:p.Pro1209=
XM_011533536.1:c.3513T>A	XP_011531838.1:p.Pro1171=
XM_011533537.1:c.3075T>A	XP_011531839.1:p.Pro1025=
XR_940397.1:n.4343T>A
XR_940398.1:n.4343T>A
NM_001365116.1:c.4065T>A	NP_001352045.1:p.Pro1355=
XM_006713072.3:c.4086T>A	XP_006713135.1:p.Pro1362=
XM_011533533.2:c.4167T>A	XP_011531835.1:p.Pro1389=
XM_017006010.1:c.4167T>A	XP_016861499.1:p.Pro1389=
XM_017006011.1:c.4146T>A	XP_016861500.1:p.Pro1382=
XM_017006012.1:c.4086T>A	XP_016861501.1:p.Pro1362=
XM_017006013.1:c.4167T>A	XP_016861502.1:p.Pro1389=
XM_017006014.1:c.4065T>A	XP_016861503.1:p.Pro1355=
XM_017006015.1:c.3798T>A	XP_016861504.1:p.Pro1266=
XM_017006016.1:c.3627T>A	XP_016861505.1:p.Pro1209=
XM_017006017.1:c.639T>A	XP_016861506.1:p.Pro213=
XR_940397.2:n.4343T>A
NM_001365116.2:c.4065T>A	NP_001352045.1:p.Pro1355=
NM_015175.3:c.4167T>A MANE Select	NP_055990.1:p.Pro1389=