Canonical Allele Identifier: CA907614254

Gene: NBEAL2

Linked Data

• dbSNP Id: rs1209261665
• gnomAD v3: 3-46999809-CCCT-C
• gnomAD v4: 3-46999809-CCCT-C
• MyVariant Identifiers: chr3:g.47041300_47041302del (hg19) ; chr3:g.46999810_46999812del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46999814_46999816del , CM000665.2:g.46999814_46999816del	GRCh38
NC_000003.11:g.47041304_47041306del , CM000665.1:g.47041304_47041306del	GRCh37
NC_000003.10:g.47016308_47016310del	NCBI36
NG_031914.1:g.25132_25134del , LRG_568:g.25132_25134del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.3790-75_3790-73del MANE Select	ENSP00000415034.2:n.3790-75_3790-73del
ENST00000651747.1:c.3688-75_3688-73del	ENSP00000499216.1:n.3688-75_3688-73del
ENST00000652744.1:n.127-75_127-73del
ENST00000416683.5:c.1959+340_1959+342del
ENST00000450053.7:c.3790-75_3790-73del	ENSP00000415034.2:n.3790-75_3790-73del
NM_015175.2:c.3790-75_3790-73del , LRG_568t1:c.3790-75_3790-73del	NP_055990.1:n.3790-75_3790-73del
XM_005264992.2:c.3688-75_3688-73del	XP_005265049.1:n.3688-75_3688-73del
XM_005264993.2:c.262-75_262-73del	XP_005265050.1:n.262-75_262-73del
XM_006713072.2:c.3709-75_3709-73del	XP_006713135.1:n.3709-75_3709-73del
XM_011533532.1:c.3769-75_3769-73del	XP_011531834.1:n.3769-75_3769-73del
XM_011533533.1:c.3790-75_3790-73del	XP_011531835.1:n.3790-75_3790-73del
XM_011533534.1:c.3421-75_3421-73del	XP_011531836.1:n.3421-75_3421-73del
XM_011533535.1:c.3250-75_3250-73del	XP_011531837.1:n.3250-75_3250-73del
XM_011533536.1:c.3136-75_3136-73del	XP_011531838.1:n.3136-75_3136-73del
XM_011533537.1:c.2698-75_2698-73del	XP_011531839.1:n.2698-75_2698-73del
XR_940397.1:n.3966-75_3966-73del
XR_940398.1:n.3966-75_3966-73del
NM_001365116.1:c.3688-75_3688-73del	NP_001352045.1:n.3688-75_3688-73del
XM_006713072.3:c.3709-75_3709-73del	XP_006713135.1:n.3709-75_3709-73del
XM_011533533.2:c.3790-75_3790-73del	XP_011531835.1:n.3790-75_3790-73del
XM_017006010.1:c.3790-75_3790-73del	XP_016861499.1:n.3790-75_3790-73del
XM_017006011.1:c.3769-75_3769-73del	XP_016861500.1:n.3769-75_3769-73del
XM_017006012.1:c.3709-75_3709-73del	XP_016861501.1:n.3709-75_3709-73del
XM_017006013.1:c.3790-75_3790-73del	XP_016861502.1:n.3790-75_3790-73del
XM_017006014.1:c.3688-75_3688-73del	XP_016861503.1:n.3688-75_3688-73del
XM_017006015.1:c.3421-75_3421-73del	XP_016861504.1:n.3421-75_3421-73del
XM_017006016.1:c.3250-75_3250-73del	XP_016861505.1:n.3250-75_3250-73del
XM_017006017.1:c.262-75_262-73del	XP_016861506.1:n.262-75_262-73del
XR_940397.2:n.3966-75_3966-73del
NM_001365116.2:c.3688-75_3688-73del	NP_001352045.1:n.3688-75_3688-73del
NM_015175.3:c.3790-75_3790-73del MANE Select	NP_055990.1:n.3790-75_3790-73del