Canonical Allele Identifier: CA346196855

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• gnomAD v4: 2-27364729-G-C
• MyVariant Identifiers: chr2:g.27587596G>C (hg19) ; chr2:g.27364729G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364729G>C , CM000664.2:g.27364729G>C	GRCh38
NC_000002.11:g.27587596G>C , CM000664.1:g.27587596G>C	GRCh37
NC_000002.10:g.27441100G>C	NCBI36
NG_009305.1:g.10729C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1361C>G (EIF2B4) MANE Select	ENSP00000233552.6:p.Ser454Cys
ENST00000347454.8:c.1361C>G (EIF2B4)	ENSP00000233552.5:p.Ser454Cys
ENST00000405940.6:c.*627C>G (EIF2B4)	ENSP00000384375.2:n.*627C>G
ENST00000445933.6:c.1358C>G (EIF2B4)	ENSP00000394397.2:p.Ser453Cys
ENST00000451130.6:c.1421C>G (EIF2B4)	ENSP00000394869.2:p.Ser474Cys
ENST00000478311.1:n.354C>G (EIF2B4)
ENST00000493344.6:c.1424C>G (EIF2B4)	ENSP00000429323.1:p.Ser475Cys
ENST00000616081.4:c.1352C>G (EIF2B4)	ENSP00000477710.1:p.Ser451Cys
ENST00000622434.4:c.*627C>G (EIF2B4)	ENSP00000479991.1:n.*627C>G
NM_001034116.1:c.1361C>G (EIF2B4)	NP_001029288.1:p.Ser454Cys
NM_015636.3:c.1358C>G (EIF2B4)	NP_056451.3:p.Ser453Cys
NM_172195.3:c.1421C>G (EIF2B4)	NP_751945.2:p.Ser474Cys
XM_005264632.1:c.1316C>G (EIF2B4)	XP_005264689.1:p.Ser439Cys
XM_006712132.1:c.1313C>G (EIF2B4)	XP_006712195.1:p.Ser438Cys
XM_011533147.1:c.743C>G (EIF2B4)	XP_011531449.1:p.Ser248Cys
XR_939868.1:n.1772-2695G>C (GTF3C2-AS2)
NM_001318965.1:c.1424C>G (EIF2B4)	NP_001305894.1:p.Ser475Cys
NM_001318966.1:c.1316C>G (EIF2B4)	NP_001305895.1:p.Ser439Cys
NM_001318967.1:c.1268C>G (EIF2B4)	NP_001305896.1:p.Ser423Cys
NM_001318968.1:c.776C>G (EIF2B4)	NP_001305897.1:p.Ser259Cys
NM_001318969.1:c.743C>G (EIF2B4)	NP_001305898.1:p.Ser248Cys
XM_011533147.2:c.743C>G (EIF2B4)	XP_011531449.1:p.Ser248Cys
NM_001034116.2:c.1361C>G (EIF2B4) MANE Select	NP_001029288.1:p.Ser454Cys
NM_001318965.2:c.1424C>G (EIF2B4)	NP_001305894.1:p.Ser475Cys
NM_001318966.2:c.1316C>G (EIF2B4)	NP_001305895.1:p.Ser439Cys
NM_001318967.2:c.1268C>G (EIF2B4)	NP_001305896.1:p.Ser423Cys
NM_001318968.2:c.776C>G (EIF2B4)	NP_001305897.1:p.Ser259Cys
NM_001318969.2:c.743C>G (EIF2B4)	NP_001305898.1:p.Ser248Cys
NM_015636.4:c.1358C>G (EIF2B4)	NP_056451.3:p.Ser453Cys
NM_172195.4:c.1421C>G (EIF2B4)	NP_751945.2:p.Ser474Cys