Canonical Allele Identifier: CA346197282

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• MyVariant Identifiers: chr2:g.27587732A>C (hg19) ; chr2:g.27364865A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364865A>C , CM000664.2:g.27364865A>C	GRCh38
NC_000002.11:g.27587732A>C , CM000664.1:g.27587732A>C	GRCh37
NC_000002.10:g.27441236A>C	NCBI36
NG_009305.1:g.10593T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1225T>G (EIF2B4) MANE Select	ENSP00000233552.6:p.Leu409Val
ENST00000347454.8:c.1225T>G (EIF2B4)	ENSP00000233552.5:p.Leu409Val
ENST00000405940.6:c.*491T>G (EIF2B4)	ENSP00000384375.2:n.*491T>G
ENST00000445933.6:c.1222T>G (EIF2B4)	ENSP00000394397.2:p.Leu408Val
ENST00000451130.6:c.1285T>G (EIF2B4)	ENSP00000394869.2:p.Leu429Val
ENST00000478311.1:n.218T>G (EIF2B4)
ENST00000493344.6:c.1288T>G (EIF2B4)	ENSP00000429323.1:p.Leu430Val
ENST00000616081.4:c.1216T>G (EIF2B4)	ENSP00000477710.1:p.Leu406Val
ENST00000622434.4:c.*491T>G (EIF2B4)	ENSP00000479991.1:n.*491T>G
NM_001034116.1:c.1225T>G (EIF2B4)	NP_001029288.1:p.Leu409Val
NM_015636.3:c.1222T>G (EIF2B4)	NP_056451.3:p.Leu408Val
NM_172195.3:c.1285T>G (EIF2B4)	NP_751945.2:p.Leu429Val
XM_005264632.1:c.1180T>G (EIF2B4)	XP_005264689.1:p.Leu394Val
XM_006712132.1:c.1177T>G (EIF2B4)	XP_006712195.1:p.Leu393Val
XM_011533147.1:c.607T>G (EIF2B4)	XP_011531449.1:p.Leu203Val
XR_939868.1:n.1772-2559A>C (GTF3C2-AS2)
NM_001318965.1:c.1288T>G (EIF2B4)	NP_001305894.1:p.Leu430Val
NM_001318966.1:c.1180T>G (EIF2B4)	NP_001305895.1:p.Leu394Val
NM_001318967.1:c.1132T>G (EIF2B4)	NP_001305896.1:p.Leu378Val
NM_001318968.1:c.640T>G (EIF2B4)	NP_001305897.1:p.Leu214Val
NM_001318969.1:c.607T>G (EIF2B4)	NP_001305898.1:p.Leu203Val
XM_011533147.2:c.607T>G (EIF2B4)	XP_011531449.1:p.Leu203Val
NM_001034116.2:c.1225T>G (EIF2B4) MANE Select	NP_001029288.1:p.Leu409Val
NM_001318965.2:c.1288T>G (EIF2B4)	NP_001305894.1:p.Leu430Val
NM_001318966.2:c.1180T>G (EIF2B4)	NP_001305895.1:p.Leu394Val
NM_001318967.2:c.1132T>G (EIF2B4)	NP_001305896.1:p.Leu378Val
NM_001318968.2:c.640T>G (EIF2B4)	NP_001305897.1:p.Leu214Val
NM_001318969.2:c.607T>G (EIF2B4)	NP_001305898.1:p.Leu203Val
NM_015636.4:c.1222T>G (EIF2B4)	NP_056451.3:p.Leu408Val
NM_172195.4:c.1285T>G (EIF2B4)	NP_751945.2:p.Leu429Val