Canonical Allele Identifier: CA346198066

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• dbSNP Id: rs1681902843
• gnomAD v4: 2-27366883-A-C
• MyVariant Identifiers: chr2:g.27589750A>C (hg19) ; chr2:g.27366883A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27366883A>C , CM000664.2:g.27366883A>C	GRCh38
NC_000002.11:g.27589750A>C , CM000664.1:g.27589750A>C	GRCh37
NC_000002.10:g.27443254A>C	NCBI36
NG_009305.1:g.8575T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000347454.9:c.1067T>G (EIF2B4) MANE Select	ENSP00000233552.6:p.Phe356Cys
ENST00000347454.8:c.1067T>G (EIF2B4)	ENSP00000233552.5:p.Phe356Cys
ENST00000405940.6:c.*333T>G (EIF2B4)	ENSP00000384375.2:n.*333T>G
ENST00000417567.1:c.641T>G (EIF2B4)
ENST00000445933.6:c.1064T>G (EIF2B4)	ENSP00000394397.2:p.Phe355Cys
ENST00000451130.6:c.1127T>G (EIF2B4)	ENSP00000394869.2:p.Phe376Cys
ENST00000475582.5:n.2968T>G (EIF2B4)
ENST00000493344.6:c.1130T>G (EIF2B4)	ENSP00000429323.1:p.Phe377Cys
ENST00000616081.4:c.1058T>G (EIF2B4)	ENSP00000477710.1:p.Phe353Cys
ENST00000622434.4:c.*333T>G (EIF2B4)	ENSP00000479991.1:n.*333T>G
NM_001034116.1:c.1067T>G (EIF2B4)	NP_001029288.1:p.Phe356Cys
NM_015636.3:c.1064T>G (EIF2B4)	NP_056451.3:p.Phe355Cys
NM_172195.3:c.1127T>G (EIF2B4)	NP_751945.2:p.Phe376Cys
XM_005264632.1:c.1022T>G (EIF2B4)	XP_005264689.1:p.Phe341Cys
XM_006712132.1:c.1019T>G (EIF2B4)	XP_006712195.1:p.Phe340Cys
XM_011533147.1:c.449T>G (EIF2B4)	XP_011531449.1:p.Phe150Cys
XR_939868.1:n.1772-541A>C (GTF3C2-AS2)
NM_001318965.1:c.1130T>G (EIF2B4)	NP_001305894.1:p.Phe377Cys
NM_001318966.1:c.1022T>G (EIF2B4)	NP_001305895.1:p.Phe341Cys
NM_001318967.1:c.974T>G (EIF2B4)	NP_001305896.1:p.Phe325Cys
NM_001318968.1:c.482T>G (EIF2B4)	NP_001305897.1:p.Phe161Cys
NM_001318969.1:c.449T>G (EIF2B4)	NP_001305898.1:p.Phe150Cys
XM_011533147.2:c.449T>G (EIF2B4)	XP_011531449.1:p.Phe150Cys
NM_001034116.2:c.1067T>G (EIF2B4) MANE Select	NP_001029288.1:p.Phe356Cys
NM_001318965.2:c.1130T>G (EIF2B4)	NP_001305894.1:p.Phe377Cys
NM_001318966.2:c.1022T>G (EIF2B4)	NP_001305895.1:p.Phe341Cys
NM_001318967.2:c.974T>G (EIF2B4)	NP_001305896.1:p.Phe325Cys
NM_001318968.2:c.482T>G (EIF2B4)	NP_001305897.1:p.Phe161Cys
NM_001318969.2:c.449T>G (EIF2B4)	NP_001305898.1:p.Phe150Cys
NM_015636.4:c.1064T>G (EIF2B4)	NP_056451.3:p.Phe355Cys
NM_172195.4:c.1127T>G (EIF2B4)	NP_751945.2:p.Phe376Cys