Canonical Allele Identifier: CA2665493391

Gene: NBEAL2

Linked Data

• gnomAD v4: 3-47000425-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000425G>T , CM000665.2:g.47000425G>T	GRCh38
NC_000003.11:g.47041915G>T , CM000665.1:g.47041915G>T	GRCh37
NC_000003.10:g.47016919G>T	NCBI36
NG_031914.1:g.25743G>T , LRG_568:g.25743G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.4305+21G>T MANE Select	ENSP00000415034.2:n.4305+21G>T
ENST00000651747.1:c.4203+21G>T	ENSP00000499216.1:n.4203+21G>T
ENST00000416683.5:c.2168+21G>T
ENST00000450053.7:c.4305+21G>T	ENSP00000415034.2:n.4305+21G>T
NM_015175.2:c.4305+21G>T , LRG_568t1:c.4305+21G>T	NP_055990.1:n.4305+21G>T
XM_005264992.2:c.4203+21G>T	XP_005265049.1:n.4203+21G>T
XM_005264993.2:c.777+21G>T	XP_005265050.1:n.777+21G>T
XM_006713072.2:c.4224+21G>T	XP_006713135.1:n.4224+21G>T
XM_011533532.1:c.4284+21G>T	XP_011531834.1:n.4284+21G>T
XM_011533533.1:c.4305+21G>T	XP_011531835.1:n.4305+21G>T
XM_011533534.1:c.3936+21G>T	XP_011531836.1:n.3936+21G>T
XM_011533535.1:c.3765+21G>T	XP_011531837.1:n.3765+21G>T
XM_011533536.1:c.3651+21G>T	XP_011531838.1:n.3651+21G>T
XM_011533537.1:c.3213+21G>T	XP_011531839.1:n.3213+21G>T
XR_940397.1:n.4481+21G>T
XR_940398.1:n.4481+21G>T
NM_001365116.1:c.4203+21G>T	NP_001352045.1:n.4203+21G>T
XM_006713072.3:c.4224+21G>T	XP_006713135.1:n.4224+21G>T
XM_011533533.2:c.4305+21G>T	XP_011531835.1:n.4305+21G>T
XM_017006010.1:c.4305+21G>T	XP_016861499.1:n.4305+21G>T
XM_017006011.1:c.4284+21G>T	XP_016861500.1:n.4284+21G>T
XM_017006012.1:c.4224+21G>T	XP_016861501.1:n.4224+21G>T
XM_017006013.1:c.4305+21G>T	XP_016861502.1:n.4305+21G>T
XM_017006014.1:c.4203+21G>T	XP_016861503.1:n.4203+21G>T
XM_017006015.1:c.3936+21G>T	XP_016861504.1:n.3936+21G>T
XM_017006016.1:c.3765+21G>T	XP_016861505.1:n.3765+21G>T
XM_017006017.1:c.777+21G>T	XP_016861506.1:n.777+21G>T
XR_940397.2:n.4481+21G>T
NM_001365116.2:c.4203+21G>T	NP_001352045.1:n.4203+21G>T
NM_015175.3:c.4305+21G>T MANE Select	NP_055990.1:n.4305+21G>T