Canonical Allele Identifier: CA2697547929

Gene: EIF2B4

Linked Data

• ClinVar Variation Id: 2698450
• ClinVar RCV Id: RCV003551764

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27367839_27367840insGTACACA , CM000664.2:g.27367839_27367840insGTACACA	GRCh38
NC_000002.11:g.27590706_27590707insGTACACA , CM000664.1:g.27590706_27590707insGTACACA	GRCh37
NC_000002.10:g.27444210_27444211insGTACACA	NCBI36
NG_009305.1:g.7618_7619insTGTGTAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.706-18_706-17insTGTGTAC MANE Select	ENSP00000233552.6:n.706-18_706-17insTGTGTAC
ENST00000347454.8:c.706-18_706-17insTGTGTAC	ENSP00000233552.5:n.706-18_706-17insTGTGTAC
ENST00000405940.6:c.680-18_680-17insTGTGTAC	ENSP00000384375.2:n.680-18_680-17insTGTGTAC
ENST00000417567.1:c.282-18_282-17insTGTGTAC
ENST00000445933.6:c.703-18_703-17insTGTGTAC	ENSP00000394397.2:n.703-18_703-17insTGTGTAC
ENST00000451130.6:c.766-18_766-17insTGTGTAC	ENSP00000394869.2:n.766-18_766-17insTGTGTAC
ENST00000475582.5:n.2011_2012insTGTGTAC
ENST00000493344.6:c.769-18_769-17insTGTGTAC	ENSP00000429323.1:n.769-18_769-17insTGTGTAC
ENST00000616081.4:c.697-18_697-17insTGTGTAC	ENSP00000477710.1:n.697-18_697-17insTGTGTAC
ENST00000622434.4:c.661-18_661-17insTGTGTAC	ENSP00000479991.1:n.661-18_661-17insTGTGTAC
NM_001034116.1:c.706-18_706-17insTGTGTAC	NP_001029288.1:n.706-18_706-17insTGTGTAC
NM_015636.3:c.703-18_703-17insTGTGTAC	NP_056451.3:n.703-18_703-17insTGTGTAC
NM_172195.3:c.766-18_766-17insTGTGTAC	NP_751945.2:n.766-18_766-17insTGTGTAC
XM_005264632.1:c.661-18_661-17insTGTGTAC	XP_005264689.1:n.661-18_661-17insTGTGTAC
XM_006712132.1:c.658-18_658-17insTGTGTAC	XP_006712195.1:n.658-18_658-17insTGTGTAC
XM_011533147.1:c.88-18_88-17insTGTGTAC	XP_011531449.1:n.88-18_88-17insTGTGTAC
NM_001318965.1:c.769-18_769-17insTGTGTAC	NP_001305894.1:n.769-18_769-17insTGTGTAC
NM_001318966.1:c.661-18_661-17insTGTGTAC	NP_001305895.1:n.661-18_661-17insTGTGTAC
NM_001318967.1:c.613-18_613-17insTGTGTAC	NP_001305896.1:n.613-18_613-17insTGTGTAC
NM_001318968.1:c.121-18_121-17insTGTGTAC	NP_001305897.1:n.121-18_121-17insTGTGTAC
NM_001318969.1:c.88-18_88-17insTGTGTAC	NP_001305898.1:n.88-18_88-17insTGTGTAC
XM_011533147.2:c.88-18_88-17insTGTGTAC	XP_011531449.1:n.88-18_88-17insTGTGTAC
NM_001034116.2:c.706-18_706-17insTGTGTAC MANE Select	NP_001029288.1:n.706-18_706-17insTGTGTAC
NM_001318965.2:c.769-18_769-17insTGTGTAC	NP_001305894.1:n.769-18_769-17insTGTGTAC
NM_001318966.2:c.661-18_661-17insTGTGTAC	NP_001305895.1:n.661-18_661-17insTGTGTAC
NM_001318967.2:c.613-18_613-17insTGTGTAC	NP_001305896.1:n.613-18_613-17insTGTGTAC
NM_001318968.2:c.121-18_121-17insTGTGTAC	NP_001305897.1:n.121-18_121-17insTGTGTAC
NM_001318969.2:c.88-18_88-17insTGTGTAC	NP_001305898.1:n.88-18_88-17insTGTGTAC
NM_015636.4:c.703-18_703-17insTGTGTAC	NP_056451.3:n.703-18_703-17insTGTGTAC
NM_172195.4:c.766-18_766-17insTGTGTAC	NP_751945.2:n.766-18_766-17insTGTGTAC