Canonical Allele Identifier: CA352516730

Gene: NBEAL2

Linked Data

• dbSNP Id: rs1349960745
• gnomAD v3: 3-47000114-T-C
• gnomAD v4: 3-47000114-T-C
• MyVariant Identifiers: chr3:g.47041604T>C (hg19) ; chr3:g.47000114T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000114T>C , CM000665.2:g.47000114T>C	GRCh38
NC_000003.11:g.47041604T>C , CM000665.1:g.47041604T>C	GRCh37
NC_000003.10:g.47016608T>C	NCBI36
NG_031914.1:g.25432T>C , LRG_568:g.25432T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.4015T>C MANE Select	ENSP00000415034.2:p.Cys1339Arg
ENST00000651747.1:c.3913T>C	ENSP00000499216.1:p.Cys1305Arg
ENST00000652744.1:n.352T>C
ENST00000416683.5:c.1960-82T>C
ENST00000450053.7:c.4015T>C	ENSP00000415034.2:p.Cys1339Arg
NM_015175.2:c.4015T>C , LRG_568t1:c.4015T>C	NP_055990.1:p.Cys1339Arg
XM_005264992.2:c.3913T>C	XP_005265049.1:p.Cys1305Arg
XM_005264993.2:c.487T>C	XP_005265050.1:p.Cys163Arg
XM_006713072.2:c.3934T>C	XP_006713135.1:p.Cys1312Arg
XM_011533532.1:c.3994T>C	XP_011531834.1:p.Cys1332Arg
XM_011533533.1:c.4015T>C	XP_011531835.1:p.Cys1339Arg
XM_011533534.1:c.3646T>C	XP_011531836.1:p.Cys1216Arg
XM_011533535.1:c.3475T>C	XP_011531837.1:p.Cys1159Arg
XM_011533536.1:c.3361T>C	XP_011531838.1:p.Cys1121Arg
XM_011533537.1:c.2923T>C	XP_011531839.1:p.Cys975Arg
XR_940397.1:n.4191T>C
XR_940398.1:n.4191T>C
NM_001365116.1:c.3913T>C	NP_001352045.1:p.Cys1305Arg
XM_006713072.3:c.3934T>C	XP_006713135.1:p.Cys1312Arg
XM_011533533.2:c.4015T>C	XP_011531835.1:p.Cys1339Arg
XM_017006010.1:c.4015T>C	XP_016861499.1:p.Cys1339Arg
XM_017006011.1:c.3994T>C	XP_016861500.1:p.Cys1332Arg
XM_017006012.1:c.3934T>C	XP_016861501.1:p.Cys1312Arg
XM_017006013.1:c.4015T>C	XP_016861502.1:p.Cys1339Arg
XM_017006014.1:c.3913T>C	XP_016861503.1:p.Cys1305Arg
XM_017006015.1:c.3646T>C	XP_016861504.1:p.Cys1216Arg
XM_017006016.1:c.3475T>C	XP_016861505.1:p.Cys1159Arg
XM_017006017.1:c.487T>C	XP_016861506.1:p.Cys163Arg
XR_940397.2:n.4191T>C
NM_001365116.2:c.3913T>C	NP_001352045.1:p.Cys1305Arg
NM_015175.3:c.4015T>C MANE Select	NP_055990.1:p.Cys1339Arg