Canonical Allele Identifier: CA1576606

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• dbSNP Id: rs748621364
• ExAC: 2:27587662 A / G
• gnomAD v2: 2-27587662-A-G
• gnomAD v4: 2-27364795-A-G
• MyVariant Identifiers: chr2:g.27587662A>G (hg19) ; chr2:g.27364795A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364795A>G , CM000664.2:g.27364795A>G	GRCh38
NC_000002.11:g.27587662A>G , CM000664.1:g.27587662A>G	GRCh37
NC_000002.10:g.27441166A>G	NCBI36
NG_009305.1:g.10663T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1295T>C (EIF2B4) MANE Select	ENSP00000233552.6:p.Val432Ala
ENST00000347454.8:c.1295T>C (EIF2B4)	ENSP00000233552.5:p.Val432Ala
ENST00000405940.6:c.*561T>C (EIF2B4)	ENSP00000384375.2:n.*561T>C
ENST00000445933.6:c.1292T>C (EIF2B4)	ENSP00000394397.2:p.Val431Ala
ENST00000451130.6:c.1355T>C (EIF2B4)	ENSP00000394869.2:p.Val452Ala
ENST00000478311.1:n.288T>C (EIF2B4)
ENST00000493344.6:c.1358T>C (EIF2B4)	ENSP00000429323.1:p.Val453Ala
ENST00000616081.4:c.1286T>C (EIF2B4)	ENSP00000477710.1:p.Val429Ala
ENST00000622434.4:c.*561T>C (EIF2B4)	ENSP00000479991.1:n.*561T>C
NM_001034116.1:c.1295T>C (EIF2B4)	NP_001029288.1:p.Val432Ala
NM_015636.3:c.1292T>C (EIF2B4)	NP_056451.3:p.Val431Ala
NM_172195.3:c.1355T>C (EIF2B4)	NP_751945.2:p.Val452Ala
XM_005264632.1:c.1250T>C (EIF2B4)	XP_005264689.1:p.Val417Ala
XM_006712132.1:c.1247T>C (EIF2B4)	XP_006712195.1:p.Val416Ala
XM_011533147.1:c.677T>C (EIF2B4)	XP_011531449.1:p.Val226Ala
XR_939868.1:n.1772-2629A>G (GTF3C2-AS2)
NM_001318965.1:c.1358T>C (EIF2B4)	NP_001305894.1:p.Val453Ala
NM_001318966.1:c.1250T>C (EIF2B4)	NP_001305895.1:p.Val417Ala
NM_001318967.1:c.1202T>C (EIF2B4)	NP_001305896.1:p.Val401Ala
NM_001318968.1:c.710T>C (EIF2B4)	NP_001305897.1:p.Val237Ala
NM_001318969.1:c.677T>C (EIF2B4)	NP_001305898.1:p.Val226Ala
XM_011533147.2:c.677T>C (EIF2B4)	XP_011531449.1:p.Val226Ala
NM_001034116.2:c.1295T>C (EIF2B4) MANE Select	NP_001029288.1:p.Val432Ala
NM_001318965.2:c.1358T>C (EIF2B4)	NP_001305894.1:p.Val453Ala
NM_001318966.2:c.1250T>C (EIF2B4)	NP_001305895.1:p.Val417Ala
NM_001318967.2:c.1202T>C (EIF2B4)	NP_001305896.1:p.Val401Ala
NM_001318968.2:c.710T>C (EIF2B4)	NP_001305897.1:p.Val237Ala
NM_001318969.2:c.677T>C (EIF2B4)	NP_001305898.1:p.Val226Ala
NM_015636.4:c.1292T>C (EIF2B4)	NP_056451.3:p.Val431Ala
NM_172195.4:c.1355T>C (EIF2B4)	NP_751945.2:p.Val452Ala