Canonical Allele Identifier: CA12720739
Gene: GTF2E2 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.30579335C>T
GRCh37 chr8:g.30436852C>T
gnomAD v2:
8:30436852 C / T
gnomAD v3:
8:30579335 C / T
gnomAD v4:
chr8-30579335-C-T
Joint Max Group AF 0.48179605 (MID)
Genomes Max Group AF 0.46573669 (NFE)
ClinVar RCV:
RCV001674378
ClinVar Variation:
1261800
dbSNP:
10503871
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.30579335C>T , CM000670.2:g.30579335C>T GRCh38
NC_000008.10:g.30436852C>T , CM000670.1:g.30436852C>T GRCh37
NC_000008.9:g.30556394C>T NCBI36
NG_052833.1:g.83907G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355904.9:c.760-298G>A MANE Select ENSP00000348168.4:n.760-298G>A
ENST00000355904.8:c.760-298G>A ENSP00000348168.4:n.760-298G>A
NM_002095.4:c.760-298G>A NP_002086.1:n.760-298G>A
NM_002095.5:c.760-298G>A NP_002086.1:n.760-298G>A
XM_017013363.1:c.760-298G>A XP_016868852.1:n.760-298G>A
XM_017013364.1:c.760-298G>A XP_016868853.1:n.760-298G>A
XM_024447138.1:c.760-298G>A XP_024302906.1:n.760-298G>A
NM_002095.6:c.760-298G>A MANE Select NP_002086.1:n.760-298G>A
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