Canonical Allele Identifier: CA352516283

Gene: NBEAL2

Linked Data

• dbSNP Id: rs1192601200
• gnomAD v2: 3-47041472-G-C
• gnomAD v4: 3-46999982-G-C
• MyVariant Identifiers: chr3:g.47041472G>C (hg19) ; chr3:g.46999982G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46999982G>C , CM000665.2:g.46999982G>C	GRCh38
NC_000003.11:g.47041472G>C , CM000665.1:g.47041472G>C	GRCh37
NC_000003.10:g.47016476G>C	NCBI36
NG_031914.1:g.25300G>C , LRG_568:g.25300G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.3883G>C MANE Select	ENSP00000415034.2:p.Glu1295Gln
ENST00000651747.1:c.3781G>C	ENSP00000499216.1:p.Glu1261Gln
ENST00000652744.1:n.220G>C
ENST00000416683.5:c.1960-214G>C
ENST00000450053.7:c.3883G>C	ENSP00000415034.2:p.Glu1295Gln
NM_015175.2:c.3883G>C , LRG_568t1:c.3883G>C	NP_055990.1:p.Glu1295Gln
XM_005264992.2:c.3781G>C	XP_005265049.1:p.Glu1261Gln
XM_005264993.2:c.355G>C	XP_005265050.1:p.Glu119Gln
XM_006713072.2:c.3802G>C	XP_006713135.1:p.Glu1268Gln
XM_011533532.1:c.3862G>C	XP_011531834.1:p.Glu1288Gln
XM_011533533.1:c.3883G>C	XP_011531835.1:p.Glu1295Gln
XM_011533534.1:c.3514G>C	XP_011531836.1:p.Glu1172Gln
XM_011533535.1:c.3343G>C	XP_011531837.1:p.Glu1115Gln
XM_011533536.1:c.3229G>C	XP_011531838.1:p.Glu1077Gln
XM_011533537.1:c.2791G>C	XP_011531839.1:p.Glu931Gln
XR_940397.1:n.4059G>C
XR_940398.1:n.4059G>C
NM_001365116.1:c.3781G>C	NP_001352045.1:p.Glu1261Gln
XM_006713072.3:c.3802G>C	XP_006713135.1:p.Glu1268Gln
XM_011533533.2:c.3883G>C	XP_011531835.1:p.Glu1295Gln
XM_017006010.1:c.3883G>C	XP_016861499.1:p.Glu1295Gln
XM_017006011.1:c.3862G>C	XP_016861500.1:p.Glu1288Gln
XM_017006012.1:c.3802G>C	XP_016861501.1:p.Glu1268Gln
XM_017006013.1:c.3883G>C	XP_016861502.1:p.Glu1295Gln
XM_017006014.1:c.3781G>C	XP_016861503.1:p.Glu1261Gln
XM_017006015.1:c.3514G>C	XP_016861504.1:p.Glu1172Gln
XM_017006016.1:c.3343G>C	XP_016861505.1:p.Glu1115Gln
XM_017006017.1:c.355G>C	XP_016861506.1:p.Glu119Gln
XR_940397.2:n.4059G>C
NM_001365116.2:c.3781G>C	NP_001352045.1:p.Glu1261Gln
NM_015175.3:c.3883G>C MANE Select	NP_055990.1:p.Glu1295Gln