Canonical Allele Identifier: CA425409755

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• ClinVar Variation Id: 895509
• ClinVar RCV Id: RCV001137649
• dbSNP Id: rs1681690750
• MyVariant Identifiers: chr2:g.27587351A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364484A>G , CM000664.2:g.27364484A>G	GRCh38
NC_000002.11:g.27587351A>G , CM000664.1:g.27587351A>G	GRCh37
NC_000002.10:g.27440855A>G	NCBI36
NG_009305.1:g.10974T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1488T>C (EIF2B4) MANE Select	ENSP00000233552.6:p.Leu496=
ENST00000347454.8:c.1488T>C (EIF2B4)	ENSP00000233552.5:p.Leu496=
ENST00000405940.6:c.*754T>C (EIF2B4)	ENSP00000384375.2:n.*754T>C
ENST00000445933.6:c.1485T>C (EIF2B4)	ENSP00000394397.2:p.Leu495=
ENST00000451130.6:c.1548T>C (EIF2B4)	ENSP00000394869.2:p.Leu516=
ENST00000478311.1:n.481T>C (EIF2B4)
ENST00000493344.6:c.1551T>C (EIF2B4)	ENSP00000429323.1:p.Leu517=
ENST00000616081.4:c.1479T>C (EIF2B4)	ENSP00000477710.1:p.Leu493=
ENST00000622434.4:c.*754T>C (EIF2B4)	ENSP00000479991.1:n.*754T>C
NM_001034116.1:c.1488T>C (EIF2B4)	NP_001029288.1:p.Leu496=
NM_015636.3:c.1485T>C (EIF2B4)	NP_056451.3:p.Leu495=
NM_172195.3:c.1548T>C (EIF2B4)	NP_751945.2:p.Leu516=
XM_005264632.1:c.1443T>C (EIF2B4)	XP_005264689.1:p.Leu481=
XM_006712132.1:c.1440T>C (EIF2B4)	XP_006712195.1:p.Leu480=
XM_011533147.1:c.870T>C (EIF2B4)	XP_011531449.1:p.Leu290=
XR_939868.1:n.1772-2940A>G (GTF3C2-AS2)
NM_001318965.1:c.1551T>C (EIF2B4)	NP_001305894.1:p.Leu517=
NM_001318966.1:c.1443T>C (EIF2B4)	NP_001305895.1:p.Leu481=
NM_001318967.1:c.1395T>C (EIF2B4)	NP_001305896.1:p.Leu465=
NM_001318968.1:c.903T>C (EIF2B4)	NP_001305897.1:p.Leu301=
NM_001318969.1:c.870T>C (EIF2B4)	NP_001305898.1:p.Leu290=
XM_011533147.2:c.870T>C (EIF2B4)	XP_011531449.1:p.Leu290=
NM_001034116.2:c.1488T>C (EIF2B4) MANE Select	NP_001029288.1:p.Leu496=
NM_001318965.2:c.1551T>C (EIF2B4)	NP_001305894.1:p.Leu517=
NM_001318966.2:c.1443T>C (EIF2B4)	NP_001305895.1:p.Leu481=
NM_001318967.2:c.1395T>C (EIF2B4)	NP_001305896.1:p.Leu465=
NM_001318968.2:c.903T>C (EIF2B4)	NP_001305897.1:p.Leu301=
NM_001318969.2:c.870T>C (EIF2B4)	NP_001305898.1:p.Leu290=
NM_015636.4:c.1485T>C (EIF2B4)	NP_056451.3:p.Leu495=
NM_172195.4:c.1548T>C (EIF2B4)	NP_751945.2:p.Leu516=