Canonical Allele Identifier: CA2361108
Gene: NBEAL2 HGNC NCBI

Linked Data

dbSNP Id: rs765451879
gnomAD v2: 3-47041500-C-T
gnomAD v3: 3-47000010-C-T
gnomAD v4: 3-47000010-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.47000010C>T , CM000665.2:g.47000010C>T GRCh38
NC_000003.11:g.47041500C>T , CM000665.1:g.47041500C>T GRCh37
NC_000003.10:g.47016504C>T NCBI36
NG_031914.1:g.25328C>T , LRG_568:g.25328C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000450053.8:c.3911C>T MANE Select ENSP00000415034.2:p.Pro1304Leu
ENST00000651747.1:c.3809C>T ENSP00000499216.1:p.Pro1270Leu
ENST00000652744.1:n.248C>T
ENST00000416683.5:c.1960-186C>T
ENST00000450053.7:c.3911C>T ENSP00000415034.2:p.Pro1304Leu
NM_015175.2:c.3911C>T , LRG_568t1:c.3911C>T NP_055990.1:p.Pro1304Leu
XM_005264992.2:c.3809C>T XP_005265049.1:p.Pro1270Leu
XM_005264993.2:c.383C>T XP_005265050.1:p.Pro128Leu
XM_006713072.2:c.3830C>T XP_006713135.1:p.Pro1277Leu
XM_011533532.1:c.3890C>T XP_011531834.1:p.Pro1297Leu
XM_011533533.1:c.3911C>T XP_011531835.1:p.Pro1304Leu
XM_011533534.1:c.3542C>T XP_011531836.1:p.Pro1181Leu
XM_011533535.1:c.3371C>T XP_011531837.1:p.Pro1124Leu
XM_011533536.1:c.3257C>T XP_011531838.1:p.Pro1086Leu
XM_011533537.1:c.2819C>T XP_011531839.1:p.Pro940Leu
XR_940397.1:n.4087C>T
XR_940398.1:n.4087C>T
NM_001365116.1:c.3809C>T NP_001352045.1:p.Pro1270Leu
XM_006713072.3:c.3830C>T XP_006713135.1:p.Pro1277Leu
XM_011533533.2:c.3911C>T XP_011531835.1:p.Pro1304Leu
XM_017006010.1:c.3911C>T XP_016861499.1:p.Pro1304Leu
XM_017006011.1:c.3890C>T XP_016861500.1:p.Pro1297Leu
XM_017006012.1:c.3830C>T XP_016861501.1:p.Pro1277Leu
XM_017006013.1:c.3911C>T XP_016861502.1:p.Pro1304Leu
XM_017006014.1:c.3809C>T XP_016861503.1:p.Pro1270Leu
XM_017006015.1:c.3542C>T XP_016861504.1:p.Pro1181Leu
XM_017006016.1:c.3371C>T XP_016861505.1:p.Pro1124Leu
XM_017006017.1:c.383C>T XP_016861506.1:p.Pro128Leu
XR_940397.2:n.4087C>T
NM_001365116.2:c.3809C>T NP_001352045.1:p.Pro1270Leu
NM_015175.3:c.3911C>T MANE Select NP_055990.1:p.Pro1304Leu