Canonical Allele Identifier: CA346197223

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• MyVariant Identifiers: chr2:g.27587711A>C (hg19) ; chr2:g.27364844A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364844A>C , CM000664.2:g.27364844A>C	GRCh38
NC_000002.11:g.27587711A>C , CM000664.1:g.27587711A>C	GRCh37
NC_000002.10:g.27441215A>C	NCBI36
NG_009305.1:g.10614T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1246T>G (EIF2B4) MANE Select	ENSP00000233552.6:p.Ser416Ala
ENST00000347454.8:c.1246T>G (EIF2B4)	ENSP00000233552.5:p.Ser416Ala
ENST00000405940.6:c.*512T>G (EIF2B4)	ENSP00000384375.2:n.*512T>G
ENST00000445933.6:c.1243T>G (EIF2B4)	ENSP00000394397.2:p.Ser415Ala
ENST00000451130.6:c.1306T>G (EIF2B4)	ENSP00000394869.2:p.Ser436Ala
ENST00000478311.1:n.239T>G (EIF2B4)
ENST00000493344.6:c.1309T>G (EIF2B4)	ENSP00000429323.1:p.Ser437Ala
ENST00000616081.4:c.1237T>G (EIF2B4)	ENSP00000477710.1:p.Ser413Ala
ENST00000622434.4:c.*512T>G (EIF2B4)	ENSP00000479991.1:n.*512T>G
NM_001034116.1:c.1246T>G (EIF2B4)	NP_001029288.1:p.Ser416Ala
NM_015636.3:c.1243T>G (EIF2B4)	NP_056451.3:p.Ser415Ala
NM_172195.3:c.1306T>G (EIF2B4)	NP_751945.2:p.Ser436Ala
XM_005264632.1:c.1201T>G (EIF2B4)	XP_005264689.1:p.Ser401Ala
XM_006712132.1:c.1198T>G (EIF2B4)	XP_006712195.1:p.Ser400Ala
XM_011533147.1:c.628T>G (EIF2B4)	XP_011531449.1:p.Ser210Ala
XR_939868.1:n.1772-2580A>C (GTF3C2-AS2)
NM_001318965.1:c.1309T>G (EIF2B4)	NP_001305894.1:p.Ser437Ala
NM_001318966.1:c.1201T>G (EIF2B4)	NP_001305895.1:p.Ser401Ala
NM_001318967.1:c.1153T>G (EIF2B4)	NP_001305896.1:p.Ser385Ala
NM_001318968.1:c.661T>G (EIF2B4)	NP_001305897.1:p.Ser221Ala
NM_001318969.1:c.628T>G (EIF2B4)	NP_001305898.1:p.Ser210Ala
XM_011533147.2:c.628T>G (EIF2B4)	XP_011531449.1:p.Ser210Ala
NM_001034116.2:c.1246T>G (EIF2B4) MANE Select	NP_001029288.1:p.Ser416Ala
NM_001318965.2:c.1309T>G (EIF2B4)	NP_001305894.1:p.Ser437Ala
NM_001318966.2:c.1201T>G (EIF2B4)	NP_001305895.1:p.Ser401Ala
NM_001318967.2:c.1153T>G (EIF2B4)	NP_001305896.1:p.Ser385Ala
NM_001318968.2:c.661T>G (EIF2B4)	NP_001305897.1:p.Ser221Ala
NM_001318969.2:c.628T>G (EIF2B4)	NP_001305898.1:p.Ser210Ala
NM_015636.4:c.1243T>G (EIF2B4)	NP_056451.3:p.Ser415Ala
NM_172195.4:c.1306T>G (EIF2B4)	NP_751945.2:p.Ser436Ala