Canonical Allele Identifier: CA2697547926

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• ClinVar Variation Id: 2754906
• ClinVar RCV Id: RCV003564083

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27366782_27367008del , CM000664.2:g.27366782_27367008del	GRCh38
NC_000002.11:g.27589649_27589875del , CM000664.1:g.27589649_27589875del	GRCh37
NC_000002.10:g.27443153_27443379del	NCBI36
NG_009305.1:g.8451_8677del

Transcript Alleles

HGVS	Amino-acid change
ENST00000347454.9:c.1013+67_1169del (EIF2B4)
ENST00000347454.8:c.1013+67_1169del (EIF2B4)
ENST00000405940.6:c.*279+67_*435del (EIF2B4)
ENST00000417567.1:c.588-71_743del (EIF2B4)
ENST00000445933.6:c.1010+67_1166del (EIF2B4)
ENST00000451130.6:c.1073+67_1229del (EIF2B4)
ENST00000475582.5:n.2844_3070del (EIF2B4)
ENST00000493344.6:c.1076+67_1232del (EIF2B4)
ENST00000616081.4:c.1004+67_1160del (EIF2B4)
ENST00000622434.4:c.*279+67_*435del (EIF2B4)
NM_001034116.1:c.1013+67_1169del (EIF2B4)
NM_015636.3:c.1010+67_1166del (EIF2B4)
NM_172195.3:c.1073+67_1229del (EIF2B4)
XM_005264632.1:c.968+67_1124del (EIF2B4)
XM_006712132.1:c.965+67_1121del (EIF2B4)
XM_011533147.1:c.395+67_551del (EIF2B4)
XR_939868.1:n.1772-642_1772-416del (GTF3C2-AS2)
NM_001318965.1:c.1076+67_1232del (EIF2B4)
NM_001318966.1:c.968+67_1124del (EIF2B4)
NM_001318967.1:c.920+67_1076del (EIF2B4)
NM_001318968.1:c.428+67_584del (EIF2B4)
NM_001318969.1:c.395+67_551del (EIF2B4)
XM_011533147.2:c.395+67_551del (EIF2B4)
NM_001034116.2:c.1013+67_1169del (EIF2B4)
NM_001318965.2:c.1076+67_1232del (EIF2B4)
NM_001318966.2:c.968+67_1124del (EIF2B4)
NM_001318967.2:c.920+67_1076del (EIF2B4)
NM_001318968.2:c.428+67_584del (EIF2B4)
NM_001318969.2:c.395+67_551del (EIF2B4)
NM_015636.4:c.1010+67_1166del (EIF2B4)
NM_172195.4:c.1073+67_1229del (EIF2B4)