Canonical Allele Identifier: CA12320266
Gene: GTF2H4 HGNC NCBI
VARS2 HGNC NCBI
COSMIC:
COSN19703011 (not active)
MyVariant.info:
GRCh38 chr6:g.30908661G>A
GRCh37 chr6:g.30876438G>A
gnomAD v2:
6:30876438 G / A
gnomAD v3:
6:30908661 G / A
gnomAD v4:
chr6-30908661-G-A
Joint Max Group AF 0.59069992 (EAS)
Genomes Max Group AF 0.59069992 (EAS)
dbSNP:
2074508
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.30908661G>A , CM000668.2:g.30908661G>A GRCh38
NC_000006.11:g.30876438G>A , CM000668.1:g.30876438G>A GRCh37
NC_000006.10:g.30984417G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000259895.9:c.-4+258G>A (GTF2H4) MANE Select ENSP00000259895.4:n.-4+258G>A
ENST00000259895.8:c.-4+258G>A (GTF2H4) ENSP00000259895.4:n.-4+258G>A
ENST00000376316.5:c.-4+283G>A (GTF2H4) ENSP00000365493.2:n.-4+283G>A
ENST00000453897.4:n.181+258G>A (GTF2H4)
ENST00000477288.5:n.162+258G>A (VARS2)
NM_001517.4:c.-4+258G>A (GTF2H4) NP_001508.1:n.-4+258G>A
NM_001517.5:c.-4+258G>A (GTF2H4) MANE Select NP_001508.1:n.-4+258G>A
Search 100 bp 5'
Search 100 bp 3'