Canonical Allele Identifier: CA1362362883
Gene: NBEAL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46999822A= , CM000665.2:g.46999822A= GRCh38
NC_000003.11:g.47041312A= , CM000665.1:g.47041312A= GRCh37
NC_000003.10:g.47016316A= NCBI36
NG_031914.1:g.25140A= , LRG_568:g.25140A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450053.8:c.3790-67A= MANE Select ENSP00000415034.2:n.3790-67A=
ENST00000651747.1:c.3688-67A= ENSP00000499216.1:n.3688-67A=
ENST00000652744.1:n.127-67A=
ENST00000416683.5:c.1959+348A=
ENST00000450053.7:c.3790-67A= ENSP00000415034.2:n.3790-67A=
NM_015175.2:c.3790-67A= , LRG_568t1:c.3790-67A= NP_055990.1:n.3790-67A=
XM_005264992.2:c.3688-67A= XP_005265049.1:n.3688-67A=
XM_005264993.2:c.262-67A= XP_005265050.1:n.262-67A=
XM_006713072.2:c.3709-67A= XP_006713135.1:n.3709-67A=
XM_011533532.1:c.3769-67A= XP_011531834.1:n.3769-67A=
XM_011533533.1:c.3790-67A= XP_011531835.1:n.3790-67A=
XM_011533534.1:c.3421-67A= XP_011531836.1:n.3421-67A=
XM_011533535.1:c.3250-67A= XP_011531837.1:n.3250-67A=
XM_011533536.1:c.3136-67A= XP_011531838.1:n.3136-67A=
XM_011533537.1:c.2698-67A= XP_011531839.1:n.2698-67A=
XR_940397.1:n.3966-67A=
XR_940398.1:n.3966-67A=
NM_001365116.1:c.3688-67A= NP_001352045.1:n.3688-67A=
XM_006713072.3:c.3709-67A= XP_006713135.1:n.3709-67A=
XM_011533533.2:c.3790-67A= XP_011531835.1:n.3790-67A=
XM_017006010.1:c.3790-67A= XP_016861499.1:n.3790-67A=
XM_017006011.1:c.3769-67A= XP_016861500.1:n.3769-67A=
XM_017006012.1:c.3709-67A= XP_016861501.1:n.3709-67A=
XM_017006013.1:c.3790-67A= XP_016861502.1:n.3790-67A=
XM_017006014.1:c.3688-67A= XP_016861503.1:n.3688-67A=
XM_017006015.1:c.3421-67A= XP_016861504.1:n.3421-67A=
XM_017006016.1:c.3250-67A= XP_016861505.1:n.3250-67A=
XM_017006017.1:c.262-67A= XP_016861506.1:n.262-67A=
XR_940397.2:n.3966-67A=
NM_001365116.2:c.3688-67A= NP_001352045.1:n.3688-67A=
NM_015175.3:c.3790-67A= MANE Select NP_055990.1:n.3790-67A=