Canonical Allele Identifier: CA352516329
Gene: NBEAL2 HGNC NCBI

Linked Data

dbSNP Id: rs769255839
gnomAD v2: 3-47041496-C-T
gnomAD v4: 3-47000006-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.47000006C>T , CM000665.2:g.47000006C>T GRCh38
NC_000003.11:g.47041496C>T , CM000665.1:g.47041496C>T GRCh37
NC_000003.10:g.47016500C>T NCBI36
NG_031914.1:g.25324C>T , LRG_568:g.25324C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000450053.8:c.3907C>T MANE Select ENSP00000415034.2:p.Pro1303Ser
ENST00000651747.1:c.3805C>T ENSP00000499216.1:p.Pro1269Ser
ENST00000652744.1:n.244C>T
ENST00000416683.5:c.1960-190C>T
ENST00000450053.7:c.3907C>T ENSP00000415034.2:p.Pro1303Ser
NM_015175.2:c.3907C>T , LRG_568t1:c.3907C>T NP_055990.1:p.Pro1303Ser
XM_005264992.2:c.3805C>T XP_005265049.1:p.Pro1269Ser
XM_005264993.2:c.379C>T XP_005265050.1:p.Pro127Ser
XM_006713072.2:c.3826C>T XP_006713135.1:p.Pro1276Ser
XM_011533532.1:c.3886C>T XP_011531834.1:p.Pro1296Ser
XM_011533533.1:c.3907C>T XP_011531835.1:p.Pro1303Ser
XM_011533534.1:c.3538C>T XP_011531836.1:p.Pro1180Ser
XM_011533535.1:c.3367C>T XP_011531837.1:p.Pro1123Ser
XM_011533536.1:c.3253C>T XP_011531838.1:p.Pro1085Ser
XM_011533537.1:c.2815C>T XP_011531839.1:p.Pro939Ser
XR_940397.1:n.4083C>T
XR_940398.1:n.4083C>T
NM_001365116.1:c.3805C>T NP_001352045.1:p.Pro1269Ser
XM_006713072.3:c.3826C>T XP_006713135.1:p.Pro1276Ser
XM_011533533.2:c.3907C>T XP_011531835.1:p.Pro1303Ser
XM_017006010.1:c.3907C>T XP_016861499.1:p.Pro1303Ser
XM_017006011.1:c.3886C>T XP_016861500.1:p.Pro1296Ser
XM_017006012.1:c.3826C>T XP_016861501.1:p.Pro1276Ser
XM_017006013.1:c.3907C>T XP_016861502.1:p.Pro1303Ser
XM_017006014.1:c.3805C>T XP_016861503.1:p.Pro1269Ser
XM_017006015.1:c.3538C>T XP_016861504.1:p.Pro1180Ser
XM_017006016.1:c.3367C>T XP_016861505.1:p.Pro1123Ser
XM_017006017.1:c.379C>T XP_016861506.1:p.Pro127Ser
XR_940397.2:n.4083C>T
NM_001365116.2:c.3805C>T NP_001352045.1:p.Pro1269Ser
NM_015175.3:c.3907C>T MANE Select NP_055990.1:p.Pro1303Ser