Canonical Allele Identifier: CA352517181

Gene: NBEAL2

Linked Data

• gnomAD v4: 3-47000336-C-G
• MyVariant Identifiers: chr3:g.47041826C>G (hg19) ; chr3:g.47000336C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000336C>G , CM000665.2:g.47000336C>G	GRCh38
NC_000003.11:g.47041826C>G , CM000665.1:g.47041826C>G	GRCh37
NC_000003.10:g.47016830C>G	NCBI36
NG_031914.1:g.25654C>G , LRG_568:g.25654C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.4237C>G MANE Select	ENSP00000415034.2:p.Leu1413Val
ENST00000651747.1:c.4135C>G	ENSP00000499216.1:p.Leu1379Val
ENST00000416683.5:c.2100C>G
ENST00000450053.7:c.4237C>G	ENSP00000415034.2:p.Leu1413Val
NM_015175.2:c.4237C>G , LRG_568t1:c.4237C>G	NP_055990.1:p.Leu1413Val
XM_005264992.2:c.4135C>G	XP_005265049.1:p.Leu1379Val
XM_005264993.2:c.709C>G	XP_005265050.1:p.Leu237Val
XM_006713072.2:c.4156C>G	XP_006713135.1:p.Leu1386Val
XM_011533532.1:c.4216C>G	XP_011531834.1:p.Leu1406Val
XM_011533533.1:c.4237C>G	XP_011531835.1:p.Leu1413Val
XM_011533534.1:c.3868C>G	XP_011531836.1:p.Leu1290Val
XM_011533535.1:c.3697C>G	XP_011531837.1:p.Leu1233Val
XM_011533536.1:c.3583C>G	XP_011531838.1:p.Leu1195Val
XM_011533537.1:c.3145C>G	XP_011531839.1:p.Leu1049Val
XR_940397.1:n.4413C>G
XR_940398.1:n.4413C>G
NM_001365116.1:c.4135C>G	NP_001352045.1:p.Leu1379Val
XM_006713072.3:c.4156C>G	XP_006713135.1:p.Leu1386Val
XM_011533533.2:c.4237C>G	XP_011531835.1:p.Leu1413Val
XM_017006010.1:c.4237C>G	XP_016861499.1:p.Leu1413Val
XM_017006011.1:c.4216C>G	XP_016861500.1:p.Leu1406Val
XM_017006012.1:c.4156C>G	XP_016861501.1:p.Leu1386Val
XM_017006013.1:c.4237C>G	XP_016861502.1:p.Leu1413Val
XM_017006014.1:c.4135C>G	XP_016861503.1:p.Leu1379Val
XM_017006015.1:c.3868C>G	XP_016861504.1:p.Leu1290Val
XM_017006016.1:c.3697C>G	XP_016861505.1:p.Leu1233Val
XM_017006017.1:c.709C>G	XP_016861506.1:p.Leu237Val
XR_940397.2:n.4413C>G
NM_001365116.2:c.4135C>G	NP_001352045.1:p.Leu1379Val
NM_015175.3:c.4237C>G MANE Select	NP_055990.1:p.Leu1413Val