Canonical Allele Identifier: CA73817541
Gene: NBEAL2 HGNC NCBI

Linked Data

dbSNP Id: rs374288995
gnomAD v3: 3-46999974-A-G
gnomAD v4: 3-46999974-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46999974A>G , CM000665.2:g.46999974A>G GRCh38
NC_000003.11:g.47041464A>G , CM000665.1:g.47041464A>G GRCh37
NC_000003.10:g.47016468A>G NCBI36
NG_031914.1:g.25292A>G , LRG_568:g.25292A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450053.8:c.3875A>G MANE Select ENSP00000415034.2:p.Tyr1292Cys
ENST00000651747.1:c.3773A>G ENSP00000499216.1:p.Tyr1258Cys
ENST00000652744.1:n.212A>G
ENST00000416683.5:c.1960-222A>G
ENST00000450053.7:c.3875A>G ENSP00000415034.2:p.Tyr1292Cys
NM_015175.2:c.3875A>G , LRG_568t1:c.3875A>G NP_055990.1:p.Tyr1292Cys
XM_005264992.2:c.3773A>G XP_005265049.1:p.Tyr1258Cys
XM_005264993.2:c.347A>G XP_005265050.1:p.Tyr116Cys
XM_006713072.2:c.3794A>G XP_006713135.1:p.Tyr1265Cys
XM_011533532.1:c.3854A>G XP_011531834.1:p.Tyr1285Cys
XM_011533533.1:c.3875A>G XP_011531835.1:p.Tyr1292Cys
XM_011533534.1:c.3506A>G XP_011531836.1:p.Tyr1169Cys
XM_011533535.1:c.3335A>G XP_011531837.1:p.Tyr1112Cys
XM_011533536.1:c.3221A>G XP_011531838.1:p.Tyr1074Cys
XM_011533537.1:c.2783A>G XP_011531839.1:p.Tyr928Cys
XR_940397.1:n.4051A>G
XR_940398.1:n.4051A>G
NM_001365116.1:c.3773A>G NP_001352045.1:p.Tyr1258Cys
XM_006713072.3:c.3794A>G XP_006713135.1:p.Tyr1265Cys
XM_011533533.2:c.3875A>G XP_011531835.1:p.Tyr1292Cys
XM_017006010.1:c.3875A>G XP_016861499.1:p.Tyr1292Cys
XM_017006011.1:c.3854A>G XP_016861500.1:p.Tyr1285Cys
XM_017006012.1:c.3794A>G XP_016861501.1:p.Tyr1265Cys
XM_017006013.1:c.3875A>G XP_016861502.1:p.Tyr1292Cys
XM_017006014.1:c.3773A>G XP_016861503.1:p.Tyr1258Cys
XM_017006015.1:c.3506A>G XP_016861504.1:p.Tyr1169Cys
XM_017006016.1:c.3335A>G XP_016861505.1:p.Tyr1112Cys
XM_017006017.1:c.347A>G XP_016861506.1:p.Tyr116Cys
XR_940397.2:n.4051A>G
NM_001365116.2:c.3773A>G NP_001352045.1:p.Tyr1258Cys
NM_015175.3:c.3875A>G MANE Select NP_055990.1:p.Tyr1292Cys