Canonical Allele Identifier: CA1362362877
Gene: NBEAL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46999810C= , CM000665.2:g.46999810C= GRCh38
NC_000003.11:g.47041300C= , CM000665.1:g.47041300C= GRCh37
NC_000003.10:g.47016304C= NCBI36
NG_031914.1:g.25128C= , LRG_568:g.25128C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450053.8:c.3790-79C= MANE Select ENSP00000415034.2:n.3790-79C=
ENST00000651747.1:c.3688-79C= ENSP00000499216.1:n.3688-79C=
ENST00000652744.1:n.127-79C=
ENST00000416683.5:c.1959+336C=
ENST00000450053.7:c.3790-79C= ENSP00000415034.2:n.3790-79C=
NM_015175.2:c.3790-79C= , LRG_568t1:c.3790-79C= NP_055990.1:n.3790-79C=
XM_005264992.2:c.3688-79C= XP_005265049.1:n.3688-79C=
XM_005264993.2:c.262-79C= XP_005265050.1:n.262-79C=
XM_006713072.2:c.3709-79C= XP_006713135.1:n.3709-79C=
XM_011533532.1:c.3769-79C= XP_011531834.1:n.3769-79C=
XM_011533533.1:c.3790-79C= XP_011531835.1:n.3790-79C=
XM_011533534.1:c.3421-79C= XP_011531836.1:n.3421-79C=
XM_011533535.1:c.3250-79C= XP_011531837.1:n.3250-79C=
XM_011533536.1:c.3136-79C= XP_011531838.1:n.3136-79C=
XM_011533537.1:c.2698-79C= XP_011531839.1:n.2698-79C=
XR_940397.1:n.3966-79C=
XR_940398.1:n.3966-79C=
NM_001365116.1:c.3688-79C= NP_001352045.1:n.3688-79C=
XM_006713072.3:c.3709-79C= XP_006713135.1:n.3709-79C=
XM_011533533.2:c.3790-79C= XP_011531835.1:n.3790-79C=
XM_017006010.1:c.3790-79C= XP_016861499.1:n.3790-79C=
XM_017006011.1:c.3769-79C= XP_016861500.1:n.3769-79C=
XM_017006012.1:c.3709-79C= XP_016861501.1:n.3709-79C=
XM_017006013.1:c.3790-79C= XP_016861502.1:n.3790-79C=
XM_017006014.1:c.3688-79C= XP_016861503.1:n.3688-79C=
XM_017006015.1:c.3421-79C= XP_016861504.1:n.3421-79C=
XM_017006016.1:c.3250-79C= XP_016861505.1:n.3250-79C=
XM_017006017.1:c.262-79C= XP_016861506.1:n.262-79C=
XR_940397.2:n.3966-79C=
NM_001365116.2:c.3688-79C= NP_001352045.1:n.3688-79C=
NM_015175.3:c.3790-79C= MANE Select NP_055990.1:n.3790-79C=