Canonical Allele Identifier: CA343286374
Community Standard Title: NM_020335.3(VANGL2):c.1057C>A (p.Arg353Ser)
Gene: VANGL2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160421171C>A , CM000663.2:g.160421171C>A GRCh38
NC_000001.10:g.160390961C>A , CM000663.1:g.160390961C>A GRCh37
NC_000001.9:g.158657585C>A NCBI36
NG_023420.1:g.25598C>A

Transcript Alleles

HGVS Amino-acid Change
NM_020335.3:c.1057C>A MANE Select NP_065068.1:p.Arg353Ser
ENST00000368061.3:c.1057C>A MANE Select ENSP00000357040.2:p.Arg353Ser
NM_020335.2:c.1057C>A NP_065068.1:p.Arg353Ser
ENST00000368061.2:c.1057C>A ENSP00000357040.2:p.Arg353Ser
ENST00000483408.1:n.237C>A
ENST00000696602.1:c.1201C>A ENSP00000512747.1:p.Arg401Ser
XM_005245357.1:c.1057C>A XP_005245414.1:p.Arg353Ser
XM_011509804.1:c.1057C>A XP_011508106.1:p.Arg353Ser
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