Canonical Allele Identifier: CA73817859

Gene: NBEAL2

Linked Data

• dbSNP Id: rs375435241
• gnomAD v4: 3-47000273-C-T
• MyVariant Identifiers: chr3:g.47041763C>T (hg19) ; chr3:g.47000273C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000273C>T , CM000665.2:g.47000273C>T	GRCh38
NC_000003.11:g.47041763C>T , CM000665.1:g.47041763C>T	GRCh37
NC_000003.10:g.47016767C>T	NCBI36
NG_031914.1:g.25591C>T , LRG_568:g.25591C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000450053.8:c.4174C>T MANE Select	ENSP00000415034.2:p.Leu1392=
ENST00000651747.1:c.4072C>T	ENSP00000499216.1:p.Leu1358=
ENST00000416683.5:c.2037C>T
ENST00000450053.7:c.4174C>T	ENSP00000415034.2:p.Leu1392=
NM_015175.2:c.4174C>T , LRG_568t1:c.4174C>T	NP_055990.1:p.Leu1392=
XM_005264992.2:c.4072C>T	XP_005265049.1:p.Leu1358=
XM_005264993.2:c.646C>T	XP_005265050.1:p.Leu216=
XM_006713072.2:c.4093C>T	XP_006713135.1:p.Leu1365=
XM_011533532.1:c.4153C>T	XP_011531834.1:p.Leu1385=
XM_011533533.1:c.4174C>T	XP_011531835.1:p.Leu1392=
XM_011533534.1:c.3805C>T	XP_011531836.1:p.Leu1269=
XM_011533535.1:c.3634C>T	XP_011531837.1:p.Leu1212=
XM_011533536.1:c.3520C>T	XP_011531838.1:p.Leu1174=
XM_011533537.1:c.3082C>T	XP_011531839.1:p.Leu1028=
XR_940397.1:n.4350C>T
XR_940398.1:n.4350C>T
NM_001365116.1:c.4072C>T	NP_001352045.1:p.Leu1358=
XM_006713072.3:c.4093C>T	XP_006713135.1:p.Leu1365=
XM_011533533.2:c.4174C>T	XP_011531835.1:p.Leu1392=
XM_017006010.1:c.4174C>T	XP_016861499.1:p.Leu1392=
XM_017006011.1:c.4153C>T	XP_016861500.1:p.Leu1385=
XM_017006012.1:c.4093C>T	XP_016861501.1:p.Leu1365=
XM_017006013.1:c.4174C>T	XP_016861502.1:p.Leu1392=
XM_017006014.1:c.4072C>T	XP_016861503.1:p.Leu1358=
XM_017006015.1:c.3805C>T	XP_016861504.1:p.Leu1269=
XM_017006016.1:c.3634C>T	XP_016861505.1:p.Leu1212=
XM_017006017.1:c.646C>T	XP_016861506.1:p.Leu216=
XR_940397.2:n.4350C>T
NM_001365116.2:c.4072C>T	NP_001352045.1:p.Leu1358=
NM_015175.3:c.4174C>T MANE Select	NP_055990.1:p.Leu1392=