Canonical Allele Identifier: CA2648683999
Gene: VANGL2 HGNC NCBI

Linked Data

gnomAD v4: 1-160425053-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160425053C>T , CM000663.2:g.160425053C>T GRCh38
NC_000001.10:g.160394843C>T , CM000663.1:g.160394843C>T GRCh37
NC_000001.9:g.158661467C>T NCBI36
NG_023420.1:g.29480C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696602.1:c.1450-65C>T ENSP00000512747.1:n.1450-65C>T
ENST00000368061.3:c.1306-65C>T MANE Select ENSP00000357040.2:n.1306-65C>T
ENST00000368061.2:c.1306-65C>T ENSP00000357040.2:n.1306-65C>T
NM_020335.2:c.1306-65C>T NP_065068.1:n.1306-65C>T
XM_005245357.1:c.1306-65C>T XP_005245414.1:n.1306-65C>T
XM_011509804.1:c.1306-65C>T XP_011508106.1:n.1306-65C>T
NM_020335.3:c.1306-65C>T MANE Select NP_065068.1:n.1306-65C>T
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