Canonical Allele Identifier: CA12320264
Gene: GTF2H4 HGNC NCBI
VARS2 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.30908375C>T
GRCh37 chr6:g.30876152C>T
gnomAD v2:
6:30876152 C / T
gnomAD v3:
6:30908375 C / T
gnomAD v4:
chr6-30908375-C-T
Joint Max Group AF 0.58898174 (EAS)
Genomes Max Group AF 0.5892103 (EAS)
Exomes Max Group AF 0.3400164 (SAS)
dbSNP:
1052693
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.30908375C>T , CM000668.2:g.30908375C>T GRCh38
NC_000006.11:g.30876152C>T , CM000668.1:g.30876152C>T GRCh37
NC_000006.10:g.30984131C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000259895.9:c.-32C>T (GTF2H4) MANE Select ENSP00000259895.4:n.-32C>T
ENST00000259895.8:c.-32C>T (GTF2H4) ENSP00000259895.4:n.-32C>T
ENST00000376316.5:c.-7C>T (GTF2H4) ENSP00000365493.2:n.-7C>T
ENST00000453897.4:n.153C>T (GTF2H4)
ENST00000477288.5:n.134C>T (VARS2)
NM_001517.4:c.-32C>T (GTF2H4) NP_001508.1:n.-32C>T
NM_001517.5:c.-32C>T (GTF2H4) MANE Select NP_001508.1:n.-32C>T
Search 100 bp 5'
Search 100 bp 3'