Canonical Allele Identifier: CA352516236

Gene: NBEAL2

Linked Data

• gnomAD v4: 3-46999955-G-T
• MyVariant Identifiers: chr3:g.47041445G>T (hg19) ; chr3:g.46999955G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46999955G>T , CM000665.2:g.46999955G>T	GRCh38
NC_000003.11:g.47041445G>T , CM000665.1:g.47041445G>T	GRCh37
NC_000003.10:g.47016449G>T	NCBI36
NG_031914.1:g.25273G>T , LRG_568:g.25273G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.3856G>T MANE Select	ENSP00000415034.2:p.Asp1286Tyr
ENST00000651747.1:c.3754G>T	ENSP00000499216.1:p.Asp1252Tyr
ENST00000652744.1:n.193G>T
ENST00000416683.5:c.1960-241G>T
ENST00000450053.7:c.3856G>T	ENSP00000415034.2:p.Asp1286Tyr
NM_015175.2:c.3856G>T , LRG_568t1:c.3856G>T	NP_055990.1:p.Asp1286Tyr
XM_005264992.2:c.3754G>T	XP_005265049.1:p.Asp1252Tyr
XM_005264993.2:c.328G>T	XP_005265050.1:p.Asp110Tyr
XM_006713072.2:c.3775G>T	XP_006713135.1:p.Asp1259Tyr
XM_011533532.1:c.3835G>T	XP_011531834.1:p.Asp1279Tyr
XM_011533533.1:c.3856G>T	XP_011531835.1:p.Asp1286Tyr
XM_011533534.1:c.3487G>T	XP_011531836.1:p.Asp1163Tyr
XM_011533535.1:c.3316G>T	XP_011531837.1:p.Asp1106Tyr
XM_011533536.1:c.3202G>T	XP_011531838.1:p.Asp1068Tyr
XM_011533537.1:c.2764G>T	XP_011531839.1:p.Asp922Tyr
XR_940397.1:n.4032G>T
XR_940398.1:n.4032G>T
NM_001365116.1:c.3754G>T	NP_001352045.1:p.Asp1252Tyr
XM_006713072.3:c.3775G>T	XP_006713135.1:p.Asp1259Tyr
XM_011533533.2:c.3856G>T	XP_011531835.1:p.Asp1286Tyr
XM_017006010.1:c.3856G>T	XP_016861499.1:p.Asp1286Tyr
XM_017006011.1:c.3835G>T	XP_016861500.1:p.Asp1279Tyr
XM_017006012.1:c.3775G>T	XP_016861501.1:p.Asp1259Tyr
XM_017006013.1:c.3856G>T	XP_016861502.1:p.Asp1286Tyr
XM_017006014.1:c.3754G>T	XP_016861503.1:p.Asp1252Tyr
XM_017006015.1:c.3487G>T	XP_016861504.1:p.Asp1163Tyr
XM_017006016.1:c.3316G>T	XP_016861505.1:p.Asp1106Tyr
XM_017006017.1:c.328G>T	XP_016861506.1:p.Asp110Tyr
XR_940397.2:n.4032G>T
NM_001365116.2:c.3754G>T	NP_001352045.1:p.Asp1252Tyr
NM_015175.3:c.3856G>T MANE Select	NP_055990.1:p.Asp1286Tyr