Canonical Allele Identifier: CA352516407

Gene: NBEAL2

Linked Data

• MyVariant Identifiers: chr3:g.47041521C>G (hg19) ; chr3:g.47000031C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000031C>G , CM000665.2:g.47000031C>G	GRCh38
NC_000003.11:g.47041521C>G , CM000665.1:g.47041521C>G	GRCh37
NC_000003.10:g.47016525C>G	NCBI36
NG_031914.1:g.25349C>G , LRG_568:g.25349C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.3932C>G MANE Select	ENSP00000415034.2:p.Thr1311Ser
ENST00000651747.1:c.3830C>G	ENSP00000499216.1:p.Thr1277Ser
ENST00000652744.1:n.269C>G
ENST00000416683.5:c.1960-165C>G
ENST00000450053.7:c.3932C>G	ENSP00000415034.2:p.Thr1311Ser
NM_015175.2:c.3932C>G , LRG_568t1:c.3932C>G	NP_055990.1:p.Thr1311Ser
XM_005264992.2:c.3830C>G	XP_005265049.1:p.Thr1277Ser
XM_005264993.2:c.404C>G	XP_005265050.1:p.Thr135Ser
XM_006713072.2:c.3851C>G	XP_006713135.1:p.Thr1284Ser
XM_011533532.1:c.3911C>G	XP_011531834.1:p.Thr1304Ser
XM_011533533.1:c.3932C>G	XP_011531835.1:p.Thr1311Ser
XM_011533534.1:c.3563C>G	XP_011531836.1:p.Thr1188Ser
XM_011533535.1:c.3392C>G	XP_011531837.1:p.Thr1131Ser
XM_011533536.1:c.3278C>G	XP_011531838.1:p.Thr1093Ser
XM_011533537.1:c.2840C>G	XP_011531839.1:p.Thr947Ser
XR_940397.1:n.4108C>G
XR_940398.1:n.4108C>G
NM_001365116.1:c.3830C>G	NP_001352045.1:p.Thr1277Ser
XM_006713072.3:c.3851C>G	XP_006713135.1:p.Thr1284Ser
XM_011533533.2:c.3932C>G	XP_011531835.1:p.Thr1311Ser
XM_017006010.1:c.3932C>G	XP_016861499.1:p.Thr1311Ser
XM_017006011.1:c.3911C>G	XP_016861500.1:p.Thr1304Ser
XM_017006012.1:c.3851C>G	XP_016861501.1:p.Thr1284Ser
XM_017006013.1:c.3932C>G	XP_016861502.1:p.Thr1311Ser
XM_017006014.1:c.3830C>G	XP_016861503.1:p.Thr1277Ser
XM_017006015.1:c.3563C>G	XP_016861504.1:p.Thr1188Ser
XM_017006016.1:c.3392C>G	XP_016861505.1:p.Thr1131Ser
XM_017006017.1:c.404C>G	XP_016861506.1:p.Thr135Ser
XR_940397.2:n.4108C>G
NM_001365116.2:c.3830C>G	NP_001352045.1:p.Thr1277Ser
NM_015175.3:c.3932C>G MANE Select	NP_055990.1:p.Thr1311Ser