Canonical Allele Identifier: CA346197398

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• MyVariant Identifiers: chr2:g.27587762A>C (hg19) ; chr2:g.27364895A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364895A>C , CM000664.2:g.27364895A>C	GRCh38
NC_000002.11:g.27587762A>C , CM000664.1:g.27587762A>C	GRCh37
NC_000002.10:g.27441266A>C	NCBI36
NG_009305.1:g.10563T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1195T>G (EIF2B4) MANE Select	ENSP00000233552.6:p.Ser399Ala
ENST00000347454.8:c.1195T>G (EIF2B4)	ENSP00000233552.5:p.Ser399Ala
ENST00000405940.6:c.*461T>G (EIF2B4)	ENSP00000384375.2:n.*461T>G
ENST00000445933.6:c.1192T>G (EIF2B4)	ENSP00000394397.2:p.Ser398Ala
ENST00000451130.6:c.1255T>G (EIF2B4)	ENSP00000394869.2:p.Ser419Ala
ENST00000478311.1:n.188T>G (EIF2B4)
ENST00000493344.6:c.1258T>G (EIF2B4)	ENSP00000429323.1:p.Ser420Ala
ENST00000616081.4:c.1186T>G (EIF2B4)	ENSP00000477710.1:p.Ser396Ala
ENST00000622434.4:c.*461T>G (EIF2B4)	ENSP00000479991.1:n.*461T>G
NM_001034116.1:c.1195T>G (EIF2B4)	NP_001029288.1:p.Ser399Ala
NM_015636.3:c.1192T>G (EIF2B4)	NP_056451.3:p.Ser398Ala
NM_172195.3:c.1255T>G (EIF2B4)	NP_751945.2:p.Ser419Ala
XM_005264632.1:c.1150T>G (EIF2B4)	XP_005264689.1:p.Ser384Ala
XM_006712132.1:c.1147T>G (EIF2B4)	XP_006712195.1:p.Ser383Ala
XM_011533147.1:c.577T>G (EIF2B4)	XP_011531449.1:p.Ser193Ala
XR_939868.1:n.1772-2529A>C (GTF3C2-AS2)
NM_001318965.1:c.1258T>G (EIF2B4)	NP_001305894.1:p.Ser420Ala
NM_001318966.1:c.1150T>G (EIF2B4)	NP_001305895.1:p.Ser384Ala
NM_001318967.1:c.1102T>G (EIF2B4)	NP_001305896.1:p.Ser368Ala
NM_001318968.1:c.610T>G (EIF2B4)	NP_001305897.1:p.Ser204Ala
NM_001318969.1:c.577T>G (EIF2B4)	NP_001305898.1:p.Ser193Ala
XM_011533147.2:c.577T>G (EIF2B4)	XP_011531449.1:p.Ser193Ala
NM_001034116.2:c.1195T>G (EIF2B4) MANE Select	NP_001029288.1:p.Ser399Ala
NM_001318965.2:c.1258T>G (EIF2B4)	NP_001305894.1:p.Ser420Ala
NM_001318966.2:c.1150T>G (EIF2B4)	NP_001305895.1:p.Ser384Ala
NM_001318967.2:c.1102T>G (EIF2B4)	NP_001305896.1:p.Ser368Ala
NM_001318968.2:c.610T>G (EIF2B4)	NP_001305897.1:p.Ser204Ala
NM_001318969.2:c.577T>G (EIF2B4)	NP_001305898.1:p.Ser193Ala
NM_015636.4:c.1192T>G (EIF2B4)	NP_056451.3:p.Ser398Ala
NM_172195.4:c.1255T>G (EIF2B4)	NP_751945.2:p.Ser419Ala