Canonical Allele Identifier: CA890114368
Gene: VANGL2 HGNC NCBI

Linked Data

dbSNP Id: rs1306854802
gnomAD v3: 1-160424973-C-G
gnomAD v4: 1-160424973-C-G
MyVariant Identifiers: chr1:g.160394763C>G (hg19) chr1:g.160424973C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160424973C>G , CM000663.2:g.160424973C>G GRCh38
NC_000001.10:g.160394763C>G , CM000663.1:g.160394763C>G GRCh37
NC_000001.9:g.158661387C>G NCBI36
NG_023420.1:g.29400C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696602.1:c.1450-145C>G ENSP00000512747.1:n.1450-145C>G
ENST00000368061.3:c.1306-145C>G MANE Select ENSP00000357040.2:n.1306-145C>G
ENST00000368061.2:c.1306-145C>G ENSP00000357040.2:n.1306-145C>G
NM_020335.2:c.1306-145C>G NP_065068.1:n.1306-145C>G
XM_005245357.1:c.1306-145C>G XP_005245414.1:n.1306-145C>G
XM_011509804.1:c.1306-145C>G XP_011508106.1:n.1306-145C>G
NM_020335.3:c.1306-145C>G MANE Select NP_065068.1:n.1306-145C>G
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