Canonical Allele Identifier: CA2361152
Gene: NBEAL2 HGNC NCBI

Linked Data

dbSNP Id: rs764151856
gnomAD v2: 3-47041727-C-G
gnomAD v4: 3-47000237-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.47000237C>G , CM000665.2:g.47000237C>G GRCh38
NC_000003.11:g.47041727C>G , CM000665.1:g.47041727C>G GRCh37
NC_000003.10:g.47016731C>G NCBI36
NG_031914.1:g.25555C>G , LRG_568:g.25555C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450053.8:c.4138C>G MANE Select ENSP00000415034.2:p.Leu1380Val
ENST00000651747.1:c.4036C>G ENSP00000499216.1:p.Leu1346Val
ENST00000652744.1:n.475C>G
ENST00000416683.5:c.2001C>G
ENST00000450053.7:c.4138C>G ENSP00000415034.2:p.Leu1380Val
NM_015175.2:c.4138C>G , LRG_568t1:c.4138C>G NP_055990.1:p.Leu1380Val
XM_005264992.2:c.4036C>G XP_005265049.1:p.Leu1346Val
XM_005264993.2:c.610C>G XP_005265050.1:p.Leu204Val
XM_006713072.2:c.4057C>G XP_006713135.1:p.Leu1353Val
XM_011533532.1:c.4117C>G XP_011531834.1:p.Leu1373Val
XM_011533533.1:c.4138C>G XP_011531835.1:p.Leu1380Val
XM_011533534.1:c.3769C>G XP_011531836.1:p.Leu1257Val
XM_011533535.1:c.3598C>G XP_011531837.1:p.Leu1200Val
XM_011533536.1:c.3484C>G XP_011531838.1:p.Leu1162Val
XM_011533537.1:c.3046C>G XP_011531839.1:p.Leu1016Val
XR_940397.1:n.4314C>G
XR_940398.1:n.4314C>G
NM_001365116.1:c.4036C>G NP_001352045.1:p.Leu1346Val
XM_006713072.3:c.4057C>G XP_006713135.1:p.Leu1353Val
XM_011533533.2:c.4138C>G XP_011531835.1:p.Leu1380Val
XM_017006010.1:c.4138C>G XP_016861499.1:p.Leu1380Val
XM_017006011.1:c.4117C>G XP_016861500.1:p.Leu1373Val
XM_017006012.1:c.4057C>G XP_016861501.1:p.Leu1353Val
XM_017006013.1:c.4138C>G XP_016861502.1:p.Leu1380Val
XM_017006014.1:c.4036C>G XP_016861503.1:p.Leu1346Val
XM_017006015.1:c.3769C>G XP_016861504.1:p.Leu1257Val
XM_017006016.1:c.3598C>G XP_016861505.1:p.Leu1200Val
XM_017006017.1:c.610C>G XP_016861506.1:p.Leu204Val
XR_940397.2:n.4314C>G
NM_001365116.2:c.4036C>G NP_001352045.1:p.Leu1346Val
NM_015175.3:c.4138C>G MANE Select NP_055990.1:p.Leu1380Val