Canonical Allele Identifier: CA890114412

Gene: VANGL2

Linked Data

• dbSNP Id: rs1263449758
• gnomAD v3: 1-160425068-C-T
• gnomAD v4: 1-160425068-C-T
• MyVariant Identifiers: chr1:g.160394858C>T (hg19) ; chr1:g.160425068C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160425068C>T , CM000663.2:g.160425068C>T	GRCh38
NC_000001.10:g.160394858C>T , CM000663.1:g.160394858C>T	GRCh37
NC_000001.9:g.158661482C>T	NCBI36
NG_023420.1:g.29495C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696602.1:c.1450-50C>T	ENSP00000512747.1:n.1450-50C>T
ENST00000368061.3:c.1306-50C>T MANE Select	ENSP00000357040.2:n.1306-50C>T
ENST00000368061.2:c.1306-50C>T	ENSP00000357040.2:n.1306-50C>T
NM_020335.2:c.1306-50C>T	NP_065068.1:n.1306-50C>T
XM_005245357.1:c.1306-50C>T	XP_005245414.1:n.1306-50C>T
XM_011509804.1:c.1306-50C>T	XP_011508106.1:n.1306-50C>T
NM_020335.3:c.1306-50C>T MANE Select	NP_065068.1:n.1306-50C>T