Canonical Allele Identifier: CA73817863

Gene: NBEAL2

Linked Data

• dbSNP Id: rs922736869
• gnomAD v4: 3-47000277-ATGGGCCGCGGCCCTTTCC-A
• MyVariant Identifiers: chr3:g.47041768_47041785del (hg19) ; chr3:g.47000278_47000295del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000280_47000297del , CM000665.2:g.47000280_47000297del	GRCh38
NC_000003.11:g.47041770_47041787del , CM000665.1:g.47041770_47041787del	GRCh37
NC_000003.10:g.47016774_47016791del	NCBI36
NG_031914.1:g.25598_25615del , LRG_568:g.25598_25615del

Transcript Alleles

HGVS	Amino-acid change
ENST00000450053.8:c.4181_4198del MANE Select	ENSP00000415034.2:p.Gly1394_Pro1399del
ENST00000651747.1:c.4079_4096del	ENSP00000499216.1:p.Gly1360_Pro1365del
ENST00000416683.5:c.2044_2061del
ENST00000450053.7:c.4181_4198del	ENSP00000415034.2:p.Gly1394_Pro1399del
NM_015175.2:c.4181_4198del , LRG_568t1:c.4181_4198del	NP_055990.1:p.Gly1394_Pro1399del
XM_005264992.2:c.4079_4096del	XP_005265049.1:p.Gly1360_Pro1365del
XM_005264993.2:c.653_670del	XP_005265050.1:p.Gly218_Pro223del
XM_006713072.2:c.4100_4117del	XP_006713135.1:p.Gly1367_Pro1372del
XM_011533532.1:c.4160_4177del	XP_011531834.1:p.Gly1387_Pro1392del
XM_011533533.1:c.4181_4198del	XP_011531835.1:p.Gly1394_Pro1399del
XM_011533534.1:c.3812_3829del	XP_011531836.1:p.Gly1271_Pro1276del
XM_011533535.1:c.3641_3658del	XP_011531837.1:p.Gly1214_Pro1219del
XM_011533536.1:c.3527_3544del	XP_011531838.1:p.Gly1176_Pro1181del
XM_011533537.1:c.3089_3106del	XP_011531839.1:p.Gly1030_Pro1035del
XR_940397.1:n.4357_4374del
XR_940398.1:n.4357_4374del
NM_001365116.1:c.4079_4096del	NP_001352045.1:p.Gly1360_Pro1365del
XM_006713072.3:c.4100_4117del	XP_006713135.1:p.Gly1367_Pro1372del
XM_011533533.2:c.4181_4198del	XP_011531835.1:p.Gly1394_Pro1399del
XM_017006010.1:c.4181_4198del	XP_016861499.1:p.Gly1394_Pro1399del
XM_017006011.1:c.4160_4177del	XP_016861500.1:p.Gly1387_Pro1392del
XM_017006012.1:c.4100_4117del	XP_016861501.1:p.Gly1367_Pro1372del
XM_017006013.1:c.4181_4198del	XP_016861502.1:p.Gly1394_Pro1399del
XM_017006014.1:c.4079_4096del	XP_016861503.1:p.Gly1360_Pro1365del
XM_017006015.1:c.3812_3829del	XP_016861504.1:p.Gly1271_Pro1276del
XM_017006016.1:c.3641_3658del	XP_016861505.1:p.Gly1214_Pro1219del
XM_017006017.1:c.653_670del	XP_016861506.1:p.Gly218_Pro223del
XR_940397.2:n.4357_4374del
NM_001365116.2:c.4079_4096del	NP_001352045.1:p.Gly1360_Pro1365del
NM_015175.3:c.4181_4198del MANE Select	NP_055990.1:p.Gly1394_Pro1399del