Canonical Allele Identifier: CA352544155
Community Standard Title: NM_015175.3(NBEAL2):c.7501C>T (p.His2501Tyr)
Gene: NBEAL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.47007691C>T , CM000665.2:g.47007691C>T GRCh38
NC_000003.11:g.47049181C>T , CM000665.1:g.47049181C>T GRCh37
NC_000003.10:g.47024185C>T NCBI36
NG_031914.1:g.33009C>T , LRG_568:g.33009C>T

Transcript Alleles

HGVS Amino-acid Change
NM_015175.3:c.7501C>T MANE Select NP_055990.1:p.His2501Tyr
ENST00000450053.8:c.7501C>T MANE Select ENSP00000415034.2:p.His2501Tyr
NM_001365116.1:c.7399C>T NP_001352045.1:p.His2467Tyr
NM_001365116.2:c.7399C>T NP_001352045.1:p.His2467Tyr
NM_015175.2:c.7501C>T , LRG_568t1:c.7501C>T NP_055990.1:p.His2501Tyr
ENST00000416683.5:c.5364C>T
ENST00000443829.5:c.2516C>T
ENST00000450053.7:c.7501C>T ENSP00000415034.2:p.His2501Tyr
ENST00000461036.1:n.490C>T
ENST00000476095.5:n.301-125C>T
ENST00000477412.1:n.369C>T
ENST00000651453.1:n.2548C>T
ENST00000651747.1:c.7399C>T ENSP00000499216.1:p.His2467Tyr
XM_005264992.2:c.7399C>T XP_005265049.1:p.His2467Tyr
XM_005264993.2:c.3973C>T XP_005265050.1:p.His1325Tyr
XM_006713072.2:c.7420C>T XP_006713135.1:p.His2474Tyr
XM_006713072.3:c.7420C>T XP_006713135.1:p.His2474Tyr
XM_011533532.1:c.7480C>T XP_011531834.1:p.His2494Tyr
XM_011533533.1:c.7411C>T XP_011531835.1:p.His2471Tyr
XM_011533533.2:c.7411C>T XP_011531835.1:p.His2471Tyr
XM_011533534.1:c.7132C>T XP_011531836.1:p.His2378Tyr
XM_011533535.1:c.6961C>T XP_011531837.1:p.His2321Tyr
XM_011533536.1:c.6847C>T XP_011531838.1:p.His2283Tyr
XM_011533537.1:c.6409C>T XP_011531839.1:p.His2137Tyr
XM_017006010.1:c.7501C>T XP_016861499.1:p.His2501Tyr
XM_017006011.1:c.7480C>T XP_016861500.1:p.His2494Tyr
XM_017006012.1:c.7420C>T XP_016861501.1:p.His2474Tyr
XM_017006013.1:c.7411C>T XP_016861502.1:p.His2471Tyr
XM_017006014.1:c.7399C>T XP_016861503.1:p.His2467Tyr
XM_017006015.1:c.7132C>T XP_016861504.1:p.His2378Tyr
XM_017006016.1:c.6961C>T XP_016861505.1:p.His2321Tyr
XM_017006017.1:c.3973C>T XP_016861506.1:p.His1325Tyr
XR_940397.1:n.7477C>T
XR_940397.2:n.7477C>T