Canonical Allele Identifier: CA2577577259

Gene: NBEAL2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46999919del , CM000665.2:g.46999919del	GRCh38
NC_000003.11:g.47041409del , CM000665.1:g.47041409del	GRCh37
NC_000003.10:g.47016413del	NCBI36
NG_031914.1:g.25237del , LRG_568:g.25237del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.3820del MANE Select	ENSP00000415034.2:p.Val1274Ter
ENST00000651747.1:c.3718del	ENSP00000499216.1:p.Val1240Ter
ENST00000652744.1:n.157del
ENST00000416683.5:c.1960-277del
ENST00000450053.7:c.3820del	ENSP00000415034.2:p.Val1274Ter
NM_015175.2:c.3820del , LRG_568t1:c.3820del	NP_055990.1:p.Val1274Ter
XM_005264992.2:c.3718del	XP_005265049.1:p.Val1240Ter
XM_005264993.2:c.292del	XP_005265050.1:p.Val98Ter
XM_006713072.2:c.3739del	XP_006713135.1:p.Val1247Ter
XM_011533532.1:c.3799del	XP_011531834.1:p.Val1267Ter
XM_011533533.1:c.3820del	XP_011531835.1:p.Val1274Ter
XM_011533534.1:c.3451del	XP_011531836.1:p.Val1151Ter
XM_011533535.1:c.3280del	XP_011531837.1:p.Val1094Ter
XM_011533536.1:c.3166del	XP_011531838.1:p.Val1056Ter
XM_011533537.1:c.2728del	XP_011531839.1:p.Val910Ter
XR_940397.1:n.3996del
XR_940398.1:n.3996del
NM_001365116.1:c.3718del	NP_001352045.1:p.Val1240Ter
XM_006713072.3:c.3739del	XP_006713135.1:p.Val1247Ter
XM_011533533.2:c.3820del	XP_011531835.1:p.Val1274Ter
XM_017006010.1:c.3820del	XP_016861499.1:p.Val1274Ter
XM_017006011.1:c.3799del	XP_016861500.1:p.Val1267Ter
XM_017006012.1:c.3739del	XP_016861501.1:p.Val1247Ter
XM_017006013.1:c.3820del	XP_016861502.1:p.Val1274Ter
XM_017006014.1:c.3718del	XP_016861503.1:p.Val1240Ter
XM_017006015.1:c.3451del	XP_016861504.1:p.Val1151Ter
XM_017006016.1:c.3280del	XP_016861505.1:p.Val1094Ter
XM_017006017.1:c.292del	XP_016861506.1:p.Val98Ter
XR_940397.2:n.3996del
NM_001365116.2:c.3718del	NP_001352045.1:p.Val1240Ter
NM_015175.3:c.3820del MANE Select	NP_055990.1:p.Val1274Ter