Canonical Allele Identifier: CA352516703

Gene: NBEAL2

Linked Data

• MyVariant Identifiers: chr3:g.47041590C>G (hg19) ; chr3:g.47000100C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000100C>G , CM000665.2:g.47000100C>G	GRCh38
NC_000003.11:g.47041590C>G , CM000665.1:g.47041590C>G	GRCh37
NC_000003.10:g.47016594C>G	NCBI36
NG_031914.1:g.25418C>G , LRG_568:g.25418C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.4001C>G MANE Select	ENSP00000415034.2:p.Pro1334Arg
ENST00000651747.1:c.3899C>G	ENSP00000499216.1:p.Pro1300Arg
ENST00000652744.1:n.338C>G
ENST00000416683.5:c.1960-96C>G
ENST00000450053.7:c.4001C>G	ENSP00000415034.2:p.Pro1334Arg
NM_015175.2:c.4001C>G , LRG_568t1:c.4001C>G	NP_055990.1:p.Pro1334Arg
XM_005264992.2:c.3899C>G	XP_005265049.1:p.Pro1300Arg
XM_005264993.2:c.473C>G	XP_005265050.1:p.Pro158Arg
XM_006713072.2:c.3920C>G	XP_006713135.1:p.Pro1307Arg
XM_011533532.1:c.3980C>G	XP_011531834.1:p.Pro1327Arg
XM_011533533.1:c.4001C>G	XP_011531835.1:p.Pro1334Arg
XM_011533534.1:c.3632C>G	XP_011531836.1:p.Pro1211Arg
XM_011533535.1:c.3461C>G	XP_011531837.1:p.Pro1154Arg
XM_011533536.1:c.3347C>G	XP_011531838.1:p.Pro1116Arg
XM_011533537.1:c.2909C>G	XP_011531839.1:p.Pro970Arg
XR_940397.1:n.4177C>G
XR_940398.1:n.4177C>G
NM_001365116.1:c.3899C>G	NP_001352045.1:p.Pro1300Arg
XM_006713072.3:c.3920C>G	XP_006713135.1:p.Pro1307Arg
XM_011533533.2:c.4001C>G	XP_011531835.1:p.Pro1334Arg
XM_017006010.1:c.4001C>G	XP_016861499.1:p.Pro1334Arg
XM_017006011.1:c.3980C>G	XP_016861500.1:p.Pro1327Arg
XM_017006012.1:c.3920C>G	XP_016861501.1:p.Pro1307Arg
XM_017006013.1:c.4001C>G	XP_016861502.1:p.Pro1334Arg
XM_017006014.1:c.3899C>G	XP_016861503.1:p.Pro1300Arg
XM_017006015.1:c.3632C>G	XP_016861504.1:p.Pro1211Arg
XM_017006016.1:c.3461C>G	XP_016861505.1:p.Pro1154Arg
XM_017006017.1:c.473C>G	XP_016861506.1:p.Pro158Arg
XR_940397.2:n.4177C>G
NM_001365116.2:c.3899C>G	NP_001352045.1:p.Pro1300Arg
NM_015175.3:c.4001C>G MANE Select	NP_055990.1:p.Pro1334Arg