Canonical Allele Identifier: CA1576607

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• ClinVar Variation Id: 2788963
• ClinVar RCV Id: RCV003674414
• dbSNP Id: rs770318466
• ExAC: 2:27587664 A / G
• gnomAD v2: 2-27587664-A-G
• gnomAD v3: 2-27364797-A-G
• gnomAD v4: 2-27364797-A-G
• MyVariant Identifiers: chr2:g.27587664A>G (hg19) ; chr2:g.27364797A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364797A>G , CM000664.2:g.27364797A>G	GRCh38
NC_000002.11:g.27587664A>G , CM000664.1:g.27587664A>G	GRCh37
NC_000002.10:g.27441168A>G	NCBI36
NG_009305.1:g.10661T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1293T>C (EIF2B4) MANE Select	ENSP00000233552.6:p.Asn431=
ENST00000347454.8:c.1293T>C (EIF2B4)	ENSP00000233552.5:p.Asn431=
ENST00000405940.6:c.*559T>C (EIF2B4)	ENSP00000384375.2:n.*559T>C
ENST00000445933.6:c.1290T>C (EIF2B4)	ENSP00000394397.2:p.Asn430=
ENST00000451130.6:c.1353T>C (EIF2B4)	ENSP00000394869.2:p.Asn451=
ENST00000478311.1:n.286T>C (EIF2B4)
ENST00000493344.6:c.1356T>C (EIF2B4)	ENSP00000429323.1:p.Asn452=
ENST00000616081.4:c.1284T>C (EIF2B4)	ENSP00000477710.1:p.Asn428=
ENST00000622434.4:c.*559T>C (EIF2B4)	ENSP00000479991.1:n.*559T>C
NM_001034116.1:c.1293T>C (EIF2B4)	NP_001029288.1:p.Asn431=
NM_015636.3:c.1290T>C (EIF2B4)	NP_056451.3:p.Asn430=
NM_172195.3:c.1353T>C (EIF2B4)	NP_751945.2:p.Asn451=
XM_005264632.1:c.1248T>C (EIF2B4)	XP_005264689.1:p.Asn416=
XM_006712132.1:c.1245T>C (EIF2B4)	XP_006712195.1:p.Asn415=
XM_011533147.1:c.675T>C (EIF2B4)	XP_011531449.1:p.Asn225=
XR_939868.1:n.1772-2627A>G (GTF3C2-AS2)
NM_001318965.1:c.1356T>C (EIF2B4)	NP_001305894.1:p.Asn452=
NM_001318966.1:c.1248T>C (EIF2B4)	NP_001305895.1:p.Asn416=
NM_001318967.1:c.1200T>C (EIF2B4)	NP_001305896.1:p.Asn400=
NM_001318968.1:c.708T>C (EIF2B4)	NP_001305897.1:p.Asn236=
NM_001318969.1:c.675T>C (EIF2B4)	NP_001305898.1:p.Asn225=
XM_011533147.2:c.675T>C (EIF2B4)	XP_011531449.1:p.Asn225=
NM_001034116.2:c.1293T>C (EIF2B4) MANE Select	NP_001029288.1:p.Asn431=
NM_001318965.2:c.1356T>C (EIF2B4)	NP_001305894.1:p.Asn452=
NM_001318966.2:c.1248T>C (EIF2B4)	NP_001305895.1:p.Asn416=
NM_001318967.2:c.1200T>C (EIF2B4)	NP_001305896.1:p.Asn400=
NM_001318968.2:c.708T>C (EIF2B4)	NP_001305897.1:p.Asn236=
NM_001318969.2:c.675T>C (EIF2B4)	NP_001305898.1:p.Asn225=
NM_015636.4:c.1290T>C (EIF2B4)	NP_056451.3:p.Asn430=
NM_172195.4:c.1353T>C (EIF2B4)	NP_751945.2:p.Asn451=