Canonical Allele Identifier: CA346199778

Gene: EIF2B4

Linked Data

• COSMIC: COSM4952771 ; COSM4952772
• MyVariant Identifiers: chr2:g.27590667G>C (hg19) ; chr2:g.27367800G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27367800G>C , CM000664.2:g.27367800G>C	GRCh38
NC_000002.11:g.27590667G>C , CM000664.1:g.27590667G>C	GRCh37
NC_000002.10:g.27444171G>C	NCBI36
NG_009305.1:g.7658C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.728C>G MANE Select	ENSP00000233552.6:p.Pro243Arg
ENST00000347454.8:c.728C>G	ENSP00000233552.5:p.Pro243Arg
ENST00000405940.6:c.702C>G	ENSP00000384375.2:p.Thr234=
ENST00000417567.1:c.304C>G
ENST00000445933.6:c.725C>G	ENSP00000394397.2:p.Pro242Arg
ENST00000451130.6:c.788C>G	ENSP00000394869.2:p.Pro263Arg
ENST00000475582.5:n.2051C>G
ENST00000493344.6:c.791C>G	ENSP00000429323.1:p.Pro264Arg
ENST00000616081.4:c.719C>G	ENSP00000477710.1:p.Pro240Arg
ENST00000622434.4:c.681C>G	ENSP00000479991.1:p.Thr227=
NM_001034116.1:c.728C>G	NP_001029288.1:p.Pro243Arg
NM_015636.3:c.725C>G	NP_056451.3:p.Pro242Arg
NM_172195.3:c.788C>G	NP_751945.2:p.Pro263Arg
XM_005264632.1:c.683C>G	XP_005264689.1:p.Pro228Arg
XM_006712132.1:c.680C>G	XP_006712195.1:p.Pro227Arg
XM_011533147.1:c.110C>G	XP_011531449.1:p.Pro37Arg
NM_001318965.1:c.791C>G	NP_001305894.1:p.Pro264Arg
NM_001318966.1:c.683C>G	NP_001305895.1:p.Pro228Arg
NM_001318967.1:c.635C>G	NP_001305896.1:p.Pro212Arg
NM_001318968.1:c.143C>G	NP_001305897.1:p.Pro48Arg
NM_001318969.1:c.110C>G	NP_001305898.1:p.Pro37Arg
XM_011533147.2:c.110C>G	XP_011531449.1:p.Pro37Arg
NM_001034116.2:c.728C>G MANE Select	NP_001029288.1:p.Pro243Arg
NM_001318965.2:c.791C>G	NP_001305894.1:p.Pro264Arg
NM_001318966.2:c.683C>G	NP_001305895.1:p.Pro228Arg
NM_001318967.2:c.635C>G	NP_001305896.1:p.Pro212Arg
NM_001318968.2:c.143C>G	NP_001305897.1:p.Pro48Arg
NM_001318969.2:c.110C>G	NP_001305898.1:p.Pro37Arg
NM_015636.4:c.725C>G	NP_056451.3:p.Pro242Arg
NM_172195.4:c.788C>G	NP_751945.2:p.Pro263Arg