Canonical Allele Identifier: CA346197888

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• MyVariant Identifiers: chr2:g.27589699A>G (hg19) ; chr2:g.27366832A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27366832A>G , CM000664.2:g.27366832A>G	GRCh38
NC_000002.11:g.27589699A>G , CM000664.1:g.27589699A>G	GRCh37
NC_000002.10:g.27443203A>G	NCBI36
NG_009305.1:g.8626T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000347454.9:c.1118T>C (EIF2B4) MANE Select	ENSP00000233552.6:p.Leu373Pro
ENST00000347454.8:c.1118T>C (EIF2B4)	ENSP00000233552.5:p.Leu373Pro
ENST00000405940.6:c.*384T>C (EIF2B4)	ENSP00000384375.2:n.*384T>C
ENST00000417567.1:c.692T>C (EIF2B4)
ENST00000445933.6:c.1115T>C (EIF2B4)	ENSP00000394397.2:p.Leu372Pro
ENST00000451130.6:c.1178T>C (EIF2B4)	ENSP00000394869.2:p.Leu393Pro
ENST00000475582.5:n.3019T>C (EIF2B4)
ENST00000493344.6:c.1181T>C (EIF2B4)	ENSP00000429323.1:p.Leu394Pro
ENST00000616081.4:c.1109T>C (EIF2B4)	ENSP00000477710.1:p.Leu370Pro
ENST00000622434.4:c.*384T>C (EIF2B4)	ENSP00000479991.1:n.*384T>C
NM_001034116.1:c.1118T>C (EIF2B4)	NP_001029288.1:p.Leu373Pro
NM_015636.3:c.1115T>C (EIF2B4)	NP_056451.3:p.Leu372Pro
NM_172195.3:c.1178T>C (EIF2B4)	NP_751945.2:p.Leu393Pro
XM_005264632.1:c.1073T>C (EIF2B4)	XP_005264689.1:p.Leu358Pro
XM_006712132.1:c.1070T>C (EIF2B4)	XP_006712195.1:p.Leu357Pro
XM_011533147.1:c.500T>C (EIF2B4)	XP_011531449.1:p.Leu167Pro
XR_939868.1:n.1772-592A>G (GTF3C2-AS2)
NM_001318965.1:c.1181T>C (EIF2B4)	NP_001305894.1:p.Leu394Pro
NM_001318966.1:c.1073T>C (EIF2B4)	NP_001305895.1:p.Leu358Pro
NM_001318967.1:c.1025T>C (EIF2B4)	NP_001305896.1:p.Leu342Pro
NM_001318968.1:c.533T>C (EIF2B4)	NP_001305897.1:p.Leu178Pro
NM_001318969.1:c.500T>C (EIF2B4)	NP_001305898.1:p.Leu167Pro
XM_011533147.2:c.500T>C (EIF2B4)	XP_011531449.1:p.Leu167Pro
NM_001034116.2:c.1118T>C (EIF2B4) MANE Select	NP_001029288.1:p.Leu373Pro
NM_001318965.2:c.1181T>C (EIF2B4)	NP_001305894.1:p.Leu394Pro
NM_001318966.2:c.1073T>C (EIF2B4)	NP_001305895.1:p.Leu358Pro
NM_001318967.2:c.1025T>C (EIF2B4)	NP_001305896.1:p.Leu342Pro
NM_001318968.2:c.533T>C (EIF2B4)	NP_001305897.1:p.Leu178Pro
NM_001318969.2:c.500T>C (EIF2B4)	NP_001305898.1:p.Leu167Pro
NM_015636.4:c.1115T>C (EIF2B4)	NP_056451.3:p.Leu372Pro
NM_172195.4:c.1178T>C (EIF2B4)	NP_751945.2:p.Leu393Pro