Canonical Allele Identifier: CA850718068

Gene: GTF2E2 SMIM18

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.30641342T>A , CM000670.2:g.30641342T>A	GRCh38
NC_000008.10:g.30498859T>A , CM000670.1:g.30498859T>A	GRCh37
NC_000008.9:g.30618401T>A	NCBI36
NG_052833.1:g.21900A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355904.9:c.167-6219A>T (GTF2E2) MANE Select	ENSP00000348168.4:n.167-6219A>T
ENST00000517349.2:c.-111+2703T>A (SMIM18) MANE Select	ENSP00000428858.1:n.-111+2703T>A
ENST00000355904.8:c.167-6219A>T (GTF2E2)	ENSP00000348168.4:n.167-6219A>T
ENST00000517349.1:c.-111+2703T>A (SMIM18)	ENSP00000428858.1:n.-111+2703T>A
ENST00000518445.1:c.167-6219A>T (GTF2E2)	ENSP00000429312.1:n.167-6219A>T
ENST00000518599.5:c.167-6219A>T (GTF2E2)	ENSP00000429921.1:n.167-6219A>T
ENST00000523499.5:c.167-4068A>T (GTF2E2)	ENSP00000428981.1:n.167-4068A>T
NM_001206847.1:c.-111+2703T>A (SMIM18)	NP_001193776.1:n.-111+2703T>A
NM_002095.4:c.167-6219A>T (GTF2E2)	NP_002086.1:n.167-6219A>T
XM_011544509.1:c.167-6219A>T (GTF2E2)	XP_011542811.1:n.167-6219A>T
XM_011544510.1:c.167-6219A>T (GTF2E2)	XP_011542812.1:n.167-6219A>T
NM_001348353.1:c.167-6219A>T (GTF2E2)	NP_001335282.1:n.167-6219A>T
NM_002095.5:c.167-6219A>T (GTF2E2)	NP_002086.1:n.167-6219A>T
XM_011544509.2:c.167-6219A>T (GTF2E2)	XP_011542811.1:n.167-6219A>T
XM_017012943.1:c.-93+2703T>A (SMIM18)	XP_016868432.1:n.-93+2703T>A
XM_017013363.1:c.167-6219A>T (GTF2E2)	XP_016868852.1:n.167-6219A>T
XM_017013364.1:c.167-6219A>T (GTF2E2)	XP_016868853.1:n.167-6219A>T
XM_024447138.1:c.167-6219A>T (GTF2E2)	XP_024302906.1:n.167-6219A>T
NM_002095.6:c.167-6219A>T (GTF2E2) MANE Select	NP_002086.1:n.167-6219A>T
NM_001206847.2:c.-111+2703T>A (SMIM18) MANE Select	NP_001193776.1:n.-111+2703T>A