Canonical Allele Identifier: CA10576099

Gene: GTF2E2

Linked Data

• ClinVar Variation Id: 225840
• ClinVar RCV Id: RCV000211060
• dbSNP Id: rs875989846
• MyVariant Identifiers: chr8:g.30469917C>G (hg19) ; chr8:g.30612400C>G (hg38)
• PubMed: PMID:26996949

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.30612400C>G , CM000670.2:g.30612400C>G	GRCh38
NC_000008.10:g.30469917C>G , CM000670.1:g.30469917C>G	GRCh37
NC_000008.9:g.30589459C>G	NCBI36
NG_052833.1:g.50842G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355904.9:c.448G>C MANE Select	ENSP00000348168.4:p.Ala150Pro
ENST00000355904.8:c.448G>C	ENSP00000348168.4:p.Ala150Pro
ENST00000518599.5:c.448G>C	ENSP00000429921.1:p.Ala150Pro
ENST00000523499.5:c.*287G>C	ENSP00000428981.1:n.*287G>C
NM_002095.4:c.448G>C	NP_002086.1:p.Ala150Pro
XM_011544509.1:c.448G>C	XP_011542811.1:p.Ala150Pro
XM_011544510.1:c.448G>C	XP_011542812.1:p.Ala150Pro
NM_001348353.1:c.448G>C	NP_001335282.1:p.Ala150Pro
NM_002095.5:c.448G>C	NP_002086.1:p.Ala150Pro
XM_011544509.2:c.448G>C	XP_011542811.1:p.Ala150Pro
XM_017013363.1:c.448G>C	XP_016868852.1:p.Ala150Pro
XM_017013364.1:c.448G>C	XP_016868853.1:p.Ala150Pro
XM_024447138.1:c.448G>C	XP_024302906.1:p.Ala150Pro
NM_002095.6:c.448G>C MANE Select	NP_002086.1:p.Ala150Pro