Canonical Allele Identifier: CA1202313683
Gene: VANGL2 HGNC NCBI

Linked Data

dbSNP Id: rs1651402234
gnomAD v4: 1-160425028-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160425028C>A , CM000663.2:g.160425028C>A GRCh38
NC_000001.10:g.160394818C>A , CM000663.1:g.160394818C>A GRCh37
NC_000001.9:g.158661442C>A NCBI36
NG_023420.1:g.29455C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696602.1:c.1450-90C>A ENSP00000512747.1:n.1450-90C>A
ENST00000368061.3:c.1306-90C>A MANE Select ENSP00000357040.2:n.1306-90C>A
ENST00000368061.2:c.1306-90C>A ENSP00000357040.2:n.1306-90C>A
NM_020335.2:c.1306-90C>A NP_065068.1:n.1306-90C>A
XM_005245357.1:c.1306-90C>A XP_005245414.1:n.1306-90C>A
XM_011509804.1:c.1306-90C>A XP_011508106.1:n.1306-90C>A
NM_020335.3:c.1306-90C>A MANE Select NP_065068.1:n.1306-90C>A
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