Canonical Allele Identifier: CA352516861

Gene: NBEAL2

Linked Data

• ClinVar Variation Id: 2622649
• ClinVar RCV Id: RCV003381788
• gnomAD v4: 3-47000172-T-C
• MyVariant Identifiers: chr3:g.47041662T>C (hg19) ; chr3:g.47000172T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000172T>C , CM000665.2:g.47000172T>C	GRCh38
NC_000003.11:g.47041662T>C , CM000665.1:g.47041662T>C	GRCh37
NC_000003.10:g.47016666T>C	NCBI36
NG_031914.1:g.25490T>C , LRG_568:g.25490T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000450053.8:c.4073T>C MANE Select	ENSP00000415034.2:p.Leu1358Pro
ENST00000651747.1:c.3971T>C	ENSP00000499216.1:p.Leu1324Pro
ENST00000652744.1:n.410T>C
ENST00000416683.5:c.1960-24T>C
ENST00000450053.7:c.4073T>C	ENSP00000415034.2:p.Leu1358Pro
NM_015175.2:c.4073T>C , LRG_568t1:c.4073T>C	NP_055990.1:p.Leu1358Pro
XM_005264992.2:c.3971T>C	XP_005265049.1:p.Leu1324Pro
XM_005264993.2:c.545T>C	XP_005265050.1:p.Leu182Pro
XM_006713072.2:c.3992T>C	XP_006713135.1:p.Leu1331Pro
XM_011533532.1:c.4052T>C	XP_011531834.1:p.Leu1351Pro
XM_011533533.1:c.4073T>C	XP_011531835.1:p.Leu1358Pro
XM_011533534.1:c.3704T>C	XP_011531836.1:p.Leu1235Pro
XM_011533535.1:c.3533T>C	XP_011531837.1:p.Leu1178Pro
XM_011533536.1:c.3419T>C	XP_011531838.1:p.Leu1140Pro
XM_011533537.1:c.2981T>C	XP_011531839.1:p.Leu994Pro
XR_940397.1:n.4249T>C
XR_940398.1:n.4249T>C
NM_001365116.1:c.3971T>C	NP_001352045.1:p.Leu1324Pro
XM_006713072.3:c.3992T>C	XP_006713135.1:p.Leu1331Pro
XM_011533533.2:c.4073T>C	XP_011531835.1:p.Leu1358Pro
XM_017006010.1:c.4073T>C	XP_016861499.1:p.Leu1358Pro
XM_017006011.1:c.4052T>C	XP_016861500.1:p.Leu1351Pro
XM_017006012.1:c.3992T>C	XP_016861501.1:p.Leu1331Pro
XM_017006013.1:c.4073T>C	XP_016861502.1:p.Leu1358Pro
XM_017006014.1:c.3971T>C	XP_016861503.1:p.Leu1324Pro
XM_017006015.1:c.3704T>C	XP_016861504.1:p.Leu1235Pro
XM_017006016.1:c.3533T>C	XP_016861505.1:p.Leu1178Pro
XM_017006017.1:c.545T>C	XP_016861506.1:p.Leu182Pro
XR_940397.2:n.4249T>C
NM_001365116.2:c.3971T>C	NP_001352045.1:p.Leu1324Pro
NM_015175.3:c.4073T>C MANE Select	NP_055990.1:p.Leu1358Pro