Canonical Allele Identifier: CA2360502

Gene: NBEAL2

Linked Data

• ClinVar Variation Id: 345632
• ClinVar RCV Id: RCV000305249 ; RCV000595231 ; RCV001821044
• dbSNP Id: rs201373710
• ExAC: 3:47037253 G / A
• gnomAD v2: 3-47037253-G-A
• gnomAD v3: 3-46995763-G-A
• gnomAD v4: 3-46995763-G-A
• MyVariant Identifiers: chr3:g.47037253G>A (hg19) ; chr3:g.46995763G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46995763G>A , CM000665.2:g.46995763G>A	GRCh38
NC_000003.11:g.47037253G>A , CM000665.1:g.47037253G>A	GRCh37
NC_000003.10:g.47012257G>A	NCBI36
NG_031914.1:g.21081G>A , LRG_568:g.21081G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.1948G>A MANE Select	ENSP00000415034.2:p.Gly650Arg
ENST00000651747.1:c.1846G>A	ENSP00000499216.1:p.Gly616Arg
ENST00000416683.5:c.363G>A
ENST00000450053.7:c.1948G>A	ENSP00000415034.2:p.Gly650Arg
NM_015175.2:c.1948G>A , LRG_568t1:c.1948G>A	NP_055990.1:p.Gly650Arg
XM_005264992.2:c.1846G>A	XP_005265049.1:p.Gly616Arg
XM_006713072.2:c.1867G>A	XP_006713135.1:p.Gly623Arg
XM_011533532.1:c.1927G>A	XP_011531834.1:p.Gly643Arg
XM_011533533.1:c.1948G>A	XP_011531835.1:p.Gly650Arg
XM_011533534.1:c.1579G>A	XP_011531836.1:p.Gly527Arg
XM_011533535.1:c.1408G>A	XP_011531837.1:p.Gly470Arg
XM_011533536.1:c.1294G>A	XP_011531838.1:p.Gly432Arg
XM_011533537.1:c.856G>A	XP_011531839.1:p.Gly286Arg
XR_940397.1:n.2124G>A
XR_940398.1:n.2124G>A
NM_001365116.1:c.1846G>A	NP_001352045.1:p.Gly616Arg
XM_006713072.3:c.1867G>A	XP_006713135.1:p.Gly623Arg
XM_011533533.2:c.1948G>A	XP_011531835.1:p.Gly650Arg
XM_017006010.1:c.1948G>A	XP_016861499.1:p.Gly650Arg
XM_017006011.1:c.1927G>A	XP_016861500.1:p.Gly643Arg
XM_017006012.1:c.1867G>A	XP_016861501.1:p.Gly623Arg
XM_017006013.1:c.1948G>A	XP_016861502.1:p.Gly650Arg
XM_017006014.1:c.1846G>A	XP_016861503.1:p.Gly616Arg
XM_017006015.1:c.1579G>A	XP_016861504.1:p.Gly527Arg
XM_017006016.1:c.1408G>A	XP_016861505.1:p.Gly470Arg
XR_940397.2:n.2124G>A
NM_001365116.2:c.1846G>A	NP_001352045.1:p.Gly616Arg
NM_015175.3:c.1948G>A MANE Select	NP_055990.1:p.Gly650Arg