Canonical Allele Identifier: CA1576663

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• dbSNP Id: rs754354365
• ExAC: 2:27589749 A / G
• gnomAD v2: 2-27589749-A-G
• gnomAD v4: 2-27366882-A-G
• MyVariant Identifiers: chr2:g.27589749A>G (hg19) ; chr2:g.27366882A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27366882A>G , CM000664.2:g.27366882A>G	GRCh38
NC_000002.11:g.27589749A>G , CM000664.1:g.27589749A>G	GRCh37
NC_000002.10:g.27443253A>G	NCBI36
NG_009305.1:g.8576T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000347454.9:c.1068T>C (EIF2B4) MANE Select	ENSP00000233552.6:p.Phe356=
ENST00000347454.8:c.1068T>C (EIF2B4)	ENSP00000233552.5:p.Phe356=
ENST00000405940.6:c.*334T>C (EIF2B4)	ENSP00000384375.2:n.*334T>C
ENST00000417567.1:c.642T>C (EIF2B4)
ENST00000445933.6:c.1065T>C (EIF2B4)	ENSP00000394397.2:p.Phe355=
ENST00000451130.6:c.1128T>C (EIF2B4)	ENSP00000394869.2:p.Phe376=
ENST00000475582.5:n.2969T>C (EIF2B4)
ENST00000493344.6:c.1131T>C (EIF2B4)	ENSP00000429323.1:p.Phe377=
ENST00000616081.4:c.1059T>C (EIF2B4)	ENSP00000477710.1:p.Phe353=
ENST00000622434.4:c.*334T>C (EIF2B4)	ENSP00000479991.1:n.*334T>C
NM_001034116.1:c.1068T>C (EIF2B4)	NP_001029288.1:p.Phe356=
NM_015636.3:c.1065T>C (EIF2B4)	NP_056451.3:p.Phe355=
NM_172195.3:c.1128T>C (EIF2B4)	NP_751945.2:p.Phe376=
XM_005264632.1:c.1023T>C (EIF2B4)	XP_005264689.1:p.Phe341=
XM_006712132.1:c.1020T>C (EIF2B4)	XP_006712195.1:p.Phe340=
XM_011533147.1:c.450T>C (EIF2B4)	XP_011531449.1:p.Phe150=
XR_939868.1:n.1772-542A>G (GTF3C2-AS2)
NM_001318965.1:c.1131T>C (EIF2B4)	NP_001305894.1:p.Phe377=
NM_001318966.1:c.1023T>C (EIF2B4)	NP_001305895.1:p.Phe341=
NM_001318967.1:c.975T>C (EIF2B4)	NP_001305896.1:p.Phe325=
NM_001318968.1:c.483T>C (EIF2B4)	NP_001305897.1:p.Phe161=
NM_001318969.1:c.450T>C (EIF2B4)	NP_001305898.1:p.Phe150=
XM_011533147.2:c.450T>C (EIF2B4)	XP_011531449.1:p.Phe150=
NM_001034116.2:c.1068T>C (EIF2B4) MANE Select	NP_001029288.1:p.Phe356=
NM_001318965.2:c.1131T>C (EIF2B4)	NP_001305894.1:p.Phe377=
NM_001318966.2:c.1023T>C (EIF2B4)	NP_001305895.1:p.Phe341=
NM_001318967.2:c.975T>C (EIF2B4)	NP_001305896.1:p.Phe325=
NM_001318968.2:c.483T>C (EIF2B4)	NP_001305897.1:p.Phe161=
NM_001318969.2:c.450T>C (EIF2B4)	NP_001305898.1:p.Phe150=
NM_015636.4:c.1065T>C (EIF2B4)	NP_056451.3:p.Phe355=
NM_172195.4:c.1128T>C (EIF2B4)	NP_751945.2:p.Phe376=