Canonical Allele Identifier: CA1008337495

Gene: VANGL2

Linked Data

• dbSNP Id: rs60322493
• gnomAD v3: 1-160425046-C-G
• gnomAD v4: 1-160425046-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160425046C>G , CM000663.2:g.160425046C>G	GRCh38
NC_000001.10:g.160394836C>G , CM000663.1:g.160394836C>G	GRCh37
NC_000001.9:g.158661460C>G	NCBI36
NG_023420.1:g.29473C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696602.1:c.1450-72C>G	ENSP00000512747.1:n.1450-72C>G
ENST00000368061.3:c.1306-72C>G MANE Select	ENSP00000357040.2:n.1306-72C>G
ENST00000368061.2:c.1306-72C>G	ENSP00000357040.2:n.1306-72C>G
NM_020335.2:c.1306-72C>G	NP_065068.1:n.1306-72C>G
XM_005245357.1:c.1306-72C>G	XP_005245414.1:n.1306-72C>G
XM_011509804.1:c.1306-72C>G	XP_011508106.1:n.1306-72C>G
NM_020335.3:c.1306-72C>G MANE Select	NP_065068.1:n.1306-72C>G