Canonical Allele Identifier: CA346197286

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• MyVariant Identifiers: chr2:g.27587734A>G (hg19) ; chr2:g.27364867A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364867A>G , CM000664.2:g.27364867A>G	GRCh38
NC_000002.11:g.27587734A>G , CM000664.1:g.27587734A>G	GRCh37
NC_000002.10:g.27441238A>G	NCBI36
NG_009305.1:g.10591T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1223T>C (EIF2B4) MANE Select	ENSP00000233552.6:p.Leu408Pro
ENST00000347454.8:c.1223T>C (EIF2B4)	ENSP00000233552.5:p.Leu408Pro
ENST00000405940.6:c.*489T>C (EIF2B4)	ENSP00000384375.2:n.*489T>C
ENST00000445933.6:c.1220T>C (EIF2B4)	ENSP00000394397.2:p.Leu407Pro
ENST00000451130.6:c.1283T>C (EIF2B4)	ENSP00000394869.2:p.Leu428Pro
ENST00000478311.1:n.216T>C (EIF2B4)
ENST00000493344.6:c.1286T>C (EIF2B4)	ENSP00000429323.1:p.Leu429Pro
ENST00000616081.4:c.1214T>C (EIF2B4)	ENSP00000477710.1:p.Leu405Pro
ENST00000622434.4:c.*489T>C (EIF2B4)	ENSP00000479991.1:n.*489T>C
NM_001034116.1:c.1223T>C (EIF2B4)	NP_001029288.1:p.Leu408Pro
NM_015636.3:c.1220T>C (EIF2B4)	NP_056451.3:p.Leu407Pro
NM_172195.3:c.1283T>C (EIF2B4)	NP_751945.2:p.Leu428Pro
XM_005264632.1:c.1178T>C (EIF2B4)	XP_005264689.1:p.Leu393Pro
XM_006712132.1:c.1175T>C (EIF2B4)	XP_006712195.1:p.Leu392Pro
XM_011533147.1:c.605T>C (EIF2B4)	XP_011531449.1:p.Leu202Pro
XR_939868.1:n.1772-2557A>G (GTF3C2-AS2)
NM_001318965.1:c.1286T>C (EIF2B4)	NP_001305894.1:p.Leu429Pro
NM_001318966.1:c.1178T>C (EIF2B4)	NP_001305895.1:p.Leu393Pro
NM_001318967.1:c.1130T>C (EIF2B4)	NP_001305896.1:p.Leu377Pro
NM_001318968.1:c.638T>C (EIF2B4)	NP_001305897.1:p.Leu213Pro
NM_001318969.1:c.605T>C (EIF2B4)	NP_001305898.1:p.Leu202Pro
XM_011533147.2:c.605T>C (EIF2B4)	XP_011531449.1:p.Leu202Pro
NM_001034116.2:c.1223T>C (EIF2B4) MANE Select	NP_001029288.1:p.Leu408Pro
NM_001318965.2:c.1286T>C (EIF2B4)	NP_001305894.1:p.Leu429Pro
NM_001318966.2:c.1178T>C (EIF2B4)	NP_001305895.1:p.Leu393Pro
NM_001318967.2:c.1130T>C (EIF2B4)	NP_001305896.1:p.Leu377Pro
NM_001318968.2:c.638T>C (EIF2B4)	NP_001305897.1:p.Leu213Pro
NM_001318969.2:c.605T>C (EIF2B4)	NP_001305898.1:p.Leu202Pro
NM_015636.4:c.1220T>C (EIF2B4)	NP_056451.3:p.Leu407Pro
NM_172195.4:c.1283T>C (EIF2B4)	NP_751945.2:p.Leu428Pro