Canonical Allele Identifier: CA346197249

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• MyVariant Identifiers: chr2:g.27587720A>C (hg19) ; chr2:g.27364853A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364853A>C , CM000664.2:g.27364853A>C	GRCh38
NC_000002.11:g.27587720A>C , CM000664.1:g.27587720A>C	GRCh37
NC_000002.10:g.27441224A>C	NCBI36
NG_009305.1:g.10605T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1237T>G (EIF2B4) MANE Select	ENSP00000233552.6:p.Ser413Ala
ENST00000347454.8:c.1237T>G (EIF2B4)	ENSP00000233552.5:p.Ser413Ala
ENST00000405940.6:c.*503T>G (EIF2B4)	ENSP00000384375.2:n.*503T>G
ENST00000445933.6:c.1234T>G (EIF2B4)	ENSP00000394397.2:p.Ser412Ala
ENST00000451130.6:c.1297T>G (EIF2B4)	ENSP00000394869.2:p.Ser433Ala
ENST00000478311.1:n.230T>G (EIF2B4)
ENST00000493344.6:c.1300T>G (EIF2B4)	ENSP00000429323.1:p.Ser434Ala
ENST00000616081.4:c.1228T>G (EIF2B4)	ENSP00000477710.1:p.Ser410Ala
ENST00000622434.4:c.*503T>G (EIF2B4)	ENSP00000479991.1:n.*503T>G
NM_001034116.1:c.1237T>G (EIF2B4)	NP_001029288.1:p.Ser413Ala
NM_015636.3:c.1234T>G (EIF2B4)	NP_056451.3:p.Ser412Ala
NM_172195.3:c.1297T>G (EIF2B4)	NP_751945.2:p.Ser433Ala
XM_005264632.1:c.1192T>G (EIF2B4)	XP_005264689.1:p.Ser398Ala
XM_006712132.1:c.1189T>G (EIF2B4)	XP_006712195.1:p.Ser397Ala
XM_011533147.1:c.619T>G (EIF2B4)	XP_011531449.1:p.Ser207Ala
XR_939868.1:n.1772-2571A>C (GTF3C2-AS2)
NM_001318965.1:c.1300T>G (EIF2B4)	NP_001305894.1:p.Ser434Ala
NM_001318966.1:c.1192T>G (EIF2B4)	NP_001305895.1:p.Ser398Ala
NM_001318967.1:c.1144T>G (EIF2B4)	NP_001305896.1:p.Ser382Ala
NM_001318968.1:c.652T>G (EIF2B4)	NP_001305897.1:p.Ser218Ala
NM_001318969.1:c.619T>G (EIF2B4)	NP_001305898.1:p.Ser207Ala
XM_011533147.2:c.619T>G (EIF2B4)	XP_011531449.1:p.Ser207Ala
NM_001034116.2:c.1237T>G (EIF2B4) MANE Select	NP_001029288.1:p.Ser413Ala
NM_001318965.2:c.1300T>G (EIF2B4)	NP_001305894.1:p.Ser434Ala
NM_001318966.2:c.1192T>G (EIF2B4)	NP_001305895.1:p.Ser398Ala
NM_001318967.2:c.1144T>G (EIF2B4)	NP_001305896.1:p.Ser382Ala
NM_001318968.2:c.652T>G (EIF2B4)	NP_001305897.1:p.Ser218Ala
NM_001318969.2:c.619T>G (EIF2B4)	NP_001305898.1:p.Ser207Ala
NM_015636.4:c.1234T>G (EIF2B4)	NP_056451.3:p.Ser412Ala
NM_172195.4:c.1297T>G (EIF2B4)	NP_751945.2:p.Ser433Ala