Canonical Allele Identifier: CA1047549891

Gene: NBEAL2

Linked Data

• dbSNP Id: rs2036874064
• gnomAD v3: 3-47000279-G-GGGCCGC
• gnomAD v4: 3-47000279-G-GGGCCGC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000284_47000289dup , CM000665.2:g.47000284_47000289dup	GRCh38
NC_000003.11:g.47041774_47041779dup , CM000665.1:g.47041774_47041779dup	GRCh37
NC_000003.10:g.47016778_47016783dup	NCBI36
NG_031914.1:g.25602_25607dup , LRG_568:g.25602_25607dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.4185_4190dup MANE Select	ENSP00000415034.2:p.Pro1397_Phe1398insArgPro
ENST00000651747.1:c.4083_4088dup	ENSP00000499216.1:p.Pro1363_Phe1364insArgPro
ENST00000416683.5:c.2048_2053dup
ENST00000450053.7:c.4185_4190dup	ENSP00000415034.2:p.Pro1397_Phe1398insArgPro
NM_015175.2:c.4185_4190dup , LRG_568t1:c.4185_4190dup	NP_055990.1:p.Pro1397_Phe1398insArgPro
XM_005264992.2:c.4083_4088dup	XP_005265049.1:p.Pro1363_Phe1364insArgPro
XM_005264993.2:c.657_662dup	XP_005265050.1:p.Pro221_Phe222insArgPro
XM_006713072.2:c.4104_4109dup	XP_006713135.1:p.Pro1370_Phe1371insArgPro
XM_011533532.1:c.4164_4169dup	XP_011531834.1:p.Pro1390_Phe1391insArgPro
XM_011533533.1:c.4185_4190dup	XP_011531835.1:p.Pro1397_Phe1398insArgPro
XM_011533534.1:c.3816_3821dup	XP_011531836.1:p.Pro1274_Phe1275insArgPro
XM_011533535.1:c.3645_3650dup	XP_011531837.1:p.Pro1217_Phe1218insArgPro
XM_011533536.1:c.3531_3536dup	XP_011531838.1:p.Pro1179_Phe1180insArgPro
XM_011533537.1:c.3093_3098dup	XP_011531839.1:p.Pro1033_Phe1034insArgPro
XR_940397.1:n.4361_4366dup
XR_940398.1:n.4361_4366dup
NM_001365116.1:c.4083_4088dup	NP_001352045.1:p.Pro1363_Phe1364insArgPro
XM_006713072.3:c.4104_4109dup	XP_006713135.1:p.Pro1370_Phe1371insArgPro
XM_011533533.2:c.4185_4190dup	XP_011531835.1:p.Pro1397_Phe1398insArgPro
XM_017006010.1:c.4185_4190dup	XP_016861499.1:p.Pro1397_Phe1398insArgPro
XM_017006011.1:c.4164_4169dup	XP_016861500.1:p.Pro1390_Phe1391insArgPro
XM_017006012.1:c.4104_4109dup	XP_016861501.1:p.Pro1370_Phe1371insArgPro
XM_017006013.1:c.4185_4190dup	XP_016861502.1:p.Pro1397_Phe1398insArgPro
XM_017006014.1:c.4083_4088dup	XP_016861503.1:p.Pro1363_Phe1364insArgPro
XM_017006015.1:c.3816_3821dup	XP_016861504.1:p.Pro1274_Phe1275insArgPro
XM_017006016.1:c.3645_3650dup	XP_016861505.1:p.Pro1217_Phe1218insArgPro
XM_017006017.1:c.657_662dup	XP_016861506.1:p.Pro221_Phe222insArgPro
XR_940397.2:n.4361_4366dup
NM_001365116.2:c.4083_4088dup	NP_001352045.1:p.Pro1363_Phe1364insArgPro
NM_015175.3:c.4185_4190dup MANE Select	NP_055990.1:p.Pro1397_Phe1398insArgPro