Canonical Allele Identifier: CA346197930

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• MyVariant Identifiers: chr2:g.27589709T>C (hg19) ; chr2:g.27366842T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27366842T>C , CM000664.2:g.27366842T>C	GRCh38
NC_000002.11:g.27589709T>C , CM000664.1:g.27589709T>C	GRCh37
NC_000002.10:g.27443213T>C	NCBI36
NG_009305.1:g.8616A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000347454.9:c.1108A>G (EIF2B4) MANE Select	ENSP00000233552.6:p.Arg370Gly
ENST00000347454.8:c.1108A>G (EIF2B4)	ENSP00000233552.5:p.Arg370Gly
ENST00000405940.6:c.*374A>G (EIF2B4)	ENSP00000384375.2:n.*374A>G
ENST00000417567.1:c.682A>G (EIF2B4)
ENST00000445933.6:c.1105A>G (EIF2B4)	ENSP00000394397.2:p.Arg369Gly
ENST00000451130.6:c.1168A>G (EIF2B4)	ENSP00000394869.2:p.Arg390Gly
ENST00000475582.5:n.3009A>G (EIF2B4)
ENST00000493344.6:c.1171A>G (EIF2B4)	ENSP00000429323.1:p.Arg391Gly
ENST00000616081.4:c.1099A>G (EIF2B4)	ENSP00000477710.1:p.Arg367Gly
ENST00000622434.4:c.*374A>G (EIF2B4)	ENSP00000479991.1:n.*374A>G
NM_001034116.1:c.1108A>G (EIF2B4)	NP_001029288.1:p.Arg370Gly
NM_015636.3:c.1105A>G (EIF2B4)	NP_056451.3:p.Arg369Gly
NM_172195.3:c.1168A>G (EIF2B4)	NP_751945.2:p.Arg390Gly
XM_005264632.1:c.1063A>G (EIF2B4)	XP_005264689.1:p.Arg355Gly
XM_006712132.1:c.1060A>G (EIF2B4)	XP_006712195.1:p.Arg354Gly
XM_011533147.1:c.490A>G (EIF2B4)	XP_011531449.1:p.Arg164Gly
XR_939868.1:n.1772-582T>C (GTF3C2-AS2)
NM_001318965.1:c.1171A>G (EIF2B4)	NP_001305894.1:p.Arg391Gly
NM_001318966.1:c.1063A>G (EIF2B4)	NP_001305895.1:p.Arg355Gly
NM_001318967.1:c.1015A>G (EIF2B4)	NP_001305896.1:p.Arg339Gly
NM_001318968.1:c.523A>G (EIF2B4)	NP_001305897.1:p.Arg175Gly
NM_001318969.1:c.490A>G (EIF2B4)	NP_001305898.1:p.Arg164Gly
XM_011533147.2:c.490A>G (EIF2B4)	XP_011531449.1:p.Arg164Gly
NM_001034116.2:c.1108A>G (EIF2B4) MANE Select	NP_001029288.1:p.Arg370Gly
NM_001318965.2:c.1171A>G (EIF2B4)	NP_001305894.1:p.Arg391Gly
NM_001318966.2:c.1063A>G (EIF2B4)	NP_001305895.1:p.Arg355Gly
NM_001318967.2:c.1015A>G (EIF2B4)	NP_001305896.1:p.Arg339Gly
NM_001318968.2:c.523A>G (EIF2B4)	NP_001305897.1:p.Arg175Gly
NM_001318969.2:c.490A>G (EIF2B4)	NP_001305898.1:p.Arg164Gly
NM_015636.4:c.1105A>G (EIF2B4)	NP_056451.3:p.Arg369Gly
NM_172195.4:c.1168A>G (EIF2B4)	NP_751945.2:p.Arg390Gly