Canonical Allele Identifier: CA2697547930

Gene: EIF2B4

Linked Data

• ClinVar Variation Id: 2698451
• ClinVar RCV Id: RCV003551765

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27367840T>A , CM000664.2:g.27367840T>A	GRCh38
NC_000002.11:g.27590707T>A , CM000664.1:g.27590707T>A	GRCh37
NC_000002.10:g.27444211T>A	NCBI36
NG_009305.1:g.7618A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.706-18A>T MANE Select	ENSP00000233552.6:n.706-18A>T
ENST00000347454.8:c.706-18A>T	ENSP00000233552.5:n.706-18A>T
ENST00000405940.6:c.680-18A>T	ENSP00000384375.2:n.680-18A>T
ENST00000417567.1:c.282-18A>T
ENST00000445933.6:c.703-18A>T	ENSP00000394397.2:n.703-18A>T
ENST00000451130.6:c.766-18A>T	ENSP00000394869.2:n.766-18A>T
ENST00000475582.5:n.2011A>T
ENST00000493344.6:c.769-18A>T	ENSP00000429323.1:n.769-18A>T
ENST00000616081.4:c.697-18A>T	ENSP00000477710.1:n.697-18A>T
ENST00000622434.4:c.661-18A>T	ENSP00000479991.1:n.661-18A>T
NM_001034116.1:c.706-18A>T	NP_001029288.1:n.706-18A>T
NM_015636.3:c.703-18A>T	NP_056451.3:n.703-18A>T
NM_172195.3:c.766-18A>T	NP_751945.2:n.766-18A>T
XM_005264632.1:c.661-18A>T	XP_005264689.1:n.661-18A>T
XM_006712132.1:c.658-18A>T	XP_006712195.1:n.658-18A>T
XM_011533147.1:c.88-18A>T	XP_011531449.1:n.88-18A>T
NM_001318965.1:c.769-18A>T	NP_001305894.1:n.769-18A>T
NM_001318966.1:c.661-18A>T	NP_001305895.1:n.661-18A>T
NM_001318967.1:c.613-18A>T	NP_001305896.1:n.613-18A>T
NM_001318968.1:c.121-18A>T	NP_001305897.1:n.121-18A>T
NM_001318969.1:c.88-18A>T	NP_001305898.1:n.88-18A>T
XM_011533147.2:c.88-18A>T	XP_011531449.1:n.88-18A>T
NM_001034116.2:c.706-18A>T MANE Select	NP_001029288.1:n.706-18A>T
NM_001318965.2:c.769-18A>T	NP_001305894.1:n.769-18A>T
NM_001318966.2:c.661-18A>T	NP_001305895.1:n.661-18A>T
NM_001318967.2:c.613-18A>T	NP_001305896.1:n.613-18A>T
NM_001318968.2:c.121-18A>T	NP_001305897.1:n.121-18A>T
NM_001318969.2:c.88-18A>T	NP_001305898.1:n.88-18A>T
NM_015636.4:c.703-18A>T	NP_056451.3:n.703-18A>T
NM_172195.4:c.766-18A>T	NP_751945.2:n.766-18A>T