Canonical Allele Identifier: CA352515412

Gene: NBEAL2

Linked Data

• MyVariant Identifiers: chr3:g.47041402G>T (hg19) ; chr3:g.46999912G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46999912G>T , CM000665.2:g.46999912G>T	GRCh38
NC_000003.11:g.47041402G>T , CM000665.1:g.47041402G>T	GRCh37
NC_000003.10:g.47016406G>T	NCBI36
NG_031914.1:g.25230G>T , LRG_568:g.25230G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.3813G>T MANE Select	ENSP00000415034.2:p.Gln1271His
ENST00000651747.1:c.3711G>T	ENSP00000499216.1:p.Gln1237His
ENST00000652744.1:n.150G>T
ENST00000416683.5:c.1960-284G>T
ENST00000450053.7:c.3813G>T	ENSP00000415034.2:p.Gln1271His
NM_015175.2:c.3813G>T , LRG_568t1:c.3813G>T	NP_055990.1:p.Gln1271His
XM_005264992.2:c.3711G>T	XP_005265049.1:p.Gln1237His
XM_005264993.2:c.285G>T	XP_005265050.1:p.Gln95His
XM_006713072.2:c.3732G>T	XP_006713135.1:p.Gln1244His
XM_011533532.1:c.3792G>T	XP_011531834.1:p.Gln1264His
XM_011533533.1:c.3813G>T	XP_011531835.1:p.Gln1271His
XM_011533534.1:c.3444G>T	XP_011531836.1:p.Gln1148His
XM_011533535.1:c.3273G>T	XP_011531837.1:p.Gln1091His
XM_011533536.1:c.3159G>T	XP_011531838.1:p.Gln1053His
XM_011533537.1:c.2721G>T	XP_011531839.1:p.Gln907His
XR_940397.1:n.3989G>T
XR_940398.1:n.3989G>T
NM_001365116.1:c.3711G>T	NP_001352045.1:p.Gln1237His
XM_006713072.3:c.3732G>T	XP_006713135.1:p.Gln1244His
XM_011533533.2:c.3813G>T	XP_011531835.1:p.Gln1271His
XM_017006010.1:c.3813G>T	XP_016861499.1:p.Gln1271His
XM_017006011.1:c.3792G>T	XP_016861500.1:p.Gln1264His
XM_017006012.1:c.3732G>T	XP_016861501.1:p.Gln1244His
XM_017006013.1:c.3813G>T	XP_016861502.1:p.Gln1271His
XM_017006014.1:c.3711G>T	XP_016861503.1:p.Gln1237His
XM_017006015.1:c.3444G>T	XP_016861504.1:p.Gln1148His
XM_017006016.1:c.3273G>T	XP_016861505.1:p.Gln1091His
XM_017006017.1:c.285G>T	XP_016861506.1:p.Gln95His
XR_940397.2:n.3989G>T
NM_001365116.2:c.3711G>T	NP_001352045.1:p.Gln1237His
NM_015175.3:c.3813G>T MANE Select	NP_055990.1:p.Gln1271His