Canonical Allele Identifier: CA2361124

Gene: NBEAL2

Linked Data

• ClinVar Variation Id: 345658
• ClinVar RCV Id: RCV000318817
• dbSNP Id: rs564781036
• ExAC: 3:47041589 C / G
• gnomAD v2: 3-47041589-C-G
• gnomAD v3: 3-47000099-C-G
• gnomAD v4: 3-47000099-C-G
• MyVariant Identifiers: chr3:g.47041589C>G (hg19) ; chr3:g.47000099C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000099C>G , CM000665.2:g.47000099C>G	GRCh38
NC_000003.11:g.47041589C>G , CM000665.1:g.47041589C>G	GRCh37
NC_000003.10:g.47016593C>G	NCBI36
NG_031914.1:g.25417C>G , LRG_568:g.25417C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.4000C>G MANE Select	ENSP00000415034.2:p.Pro1334Ala
ENST00000651747.1:c.3898C>G	ENSP00000499216.1:p.Pro1300Ala
ENST00000652744.1:n.337C>G
ENST00000416683.5:c.1960-97C>G
ENST00000450053.7:c.4000C>G	ENSP00000415034.2:p.Pro1334Ala
NM_015175.2:c.4000C>G , LRG_568t1:c.4000C>G	NP_055990.1:p.Pro1334Ala
XM_005264992.2:c.3898C>G	XP_005265049.1:p.Pro1300Ala
XM_005264993.2:c.472C>G	XP_005265050.1:p.Pro158Ala
XM_006713072.2:c.3919C>G	XP_006713135.1:p.Pro1307Ala
XM_011533532.1:c.3979C>G	XP_011531834.1:p.Pro1327Ala
XM_011533533.1:c.4000C>G	XP_011531835.1:p.Pro1334Ala
XM_011533534.1:c.3631C>G	XP_011531836.1:p.Pro1211Ala
XM_011533535.1:c.3460C>G	XP_011531837.1:p.Pro1154Ala
XM_011533536.1:c.3346C>G	XP_011531838.1:p.Pro1116Ala
XM_011533537.1:c.2908C>G	XP_011531839.1:p.Pro970Ala
XR_940397.1:n.4176C>G
XR_940398.1:n.4176C>G
NM_001365116.1:c.3898C>G	NP_001352045.1:p.Pro1300Ala
XM_006713072.3:c.3919C>G	XP_006713135.1:p.Pro1307Ala
XM_011533533.2:c.4000C>G	XP_011531835.1:p.Pro1334Ala
XM_017006010.1:c.4000C>G	XP_016861499.1:p.Pro1334Ala
XM_017006011.1:c.3979C>G	XP_016861500.1:p.Pro1327Ala
XM_017006012.1:c.3919C>G	XP_016861501.1:p.Pro1307Ala
XM_017006013.1:c.4000C>G	XP_016861502.1:p.Pro1334Ala
XM_017006014.1:c.3898C>G	XP_016861503.1:p.Pro1300Ala
XM_017006015.1:c.3631C>G	XP_016861504.1:p.Pro1211Ala
XM_017006016.1:c.3460C>G	XP_016861505.1:p.Pro1154Ala
XM_017006017.1:c.472C>G	XP_016861506.1:p.Pro158Ala
XR_940397.2:n.4176C>G
NM_001365116.2:c.3898C>G	NP_001352045.1:p.Pro1300Ala
NM_015175.3:c.4000C>G MANE Select	NP_055990.1:p.Pro1334Ala