Canonical Allele Identifier: CA352517122

Gene: NBEAL2

Linked Data

• MyVariant Identifiers: chr3:g.47041799C>G (hg19) ; chr3:g.47000309C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000309C>G , CM000665.2:g.47000309C>G	GRCh38
NC_000003.11:g.47041799C>G , CM000665.1:g.47041799C>G	GRCh37
NC_000003.10:g.47016803C>G	NCBI36
NG_031914.1:g.25627C>G , LRG_568:g.25627C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.4210C>G MANE Select	ENSP00000415034.2:p.Arg1404Gly
ENST00000651747.1:c.4108C>G	ENSP00000499216.1:p.Arg1370Gly
ENST00000416683.5:c.2073C>G
ENST00000450053.7:c.4210C>G	ENSP00000415034.2:p.Arg1404Gly
NM_015175.2:c.4210C>G , LRG_568t1:c.4210C>G	NP_055990.1:p.Arg1404Gly
XM_005264992.2:c.4108C>G	XP_005265049.1:p.Arg1370Gly
XM_005264993.2:c.682C>G	XP_005265050.1:p.Arg228Gly
XM_006713072.2:c.4129C>G	XP_006713135.1:p.Arg1377Gly
XM_011533532.1:c.4189C>G	XP_011531834.1:p.Arg1397Gly
XM_011533533.1:c.4210C>G	XP_011531835.1:p.Arg1404Gly
XM_011533534.1:c.3841C>G	XP_011531836.1:p.Arg1281Gly
XM_011533535.1:c.3670C>G	XP_011531837.1:p.Arg1224Gly
XM_011533536.1:c.3556C>G	XP_011531838.1:p.Arg1186Gly
XM_011533537.1:c.3118C>G	XP_011531839.1:p.Arg1040Gly
XR_940397.1:n.4386C>G
XR_940398.1:n.4386C>G
NM_001365116.1:c.4108C>G	NP_001352045.1:p.Arg1370Gly
XM_006713072.3:c.4129C>G	XP_006713135.1:p.Arg1377Gly
XM_011533533.2:c.4210C>G	XP_011531835.1:p.Arg1404Gly
XM_017006010.1:c.4210C>G	XP_016861499.1:p.Arg1404Gly
XM_017006011.1:c.4189C>G	XP_016861500.1:p.Arg1397Gly
XM_017006012.1:c.4129C>G	XP_016861501.1:p.Arg1377Gly
XM_017006013.1:c.4210C>G	XP_016861502.1:p.Arg1404Gly
XM_017006014.1:c.4108C>G	XP_016861503.1:p.Arg1370Gly
XM_017006015.1:c.3841C>G	XP_016861504.1:p.Arg1281Gly
XM_017006016.1:c.3670C>G	XP_016861505.1:p.Arg1224Gly
XM_017006017.1:c.682C>G	XP_016861506.1:p.Arg228Gly
XR_940397.2:n.4386C>G
NM_001365116.2:c.4108C>G	NP_001352045.1:p.Arg1370Gly
NM_015175.3:c.4210C>G MANE Select	NP_055990.1:p.Arg1404Gly