Canonical Allele Identifier: CA346197136

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• MyVariant Identifiers: chr2:g.27587683A>C (hg19) ; chr2:g.27364816A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364816A>C , CM000664.2:g.27364816A>C	GRCh38
NC_000002.11:g.27587683A>C , CM000664.1:g.27587683A>C	GRCh37
NC_000002.10:g.27441187A>C	NCBI36
NG_009305.1:g.10642T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1274T>G (EIF2B4) MANE Select	ENSP00000233552.6:p.Leu425Arg
ENST00000347454.8:c.1274T>G (EIF2B4)	ENSP00000233552.5:p.Leu425Arg
ENST00000405940.6:c.*540T>G (EIF2B4)	ENSP00000384375.2:n.*540T>G
ENST00000445933.6:c.1271T>G (EIF2B4)	ENSP00000394397.2:p.Leu424Arg
ENST00000451130.6:c.1334T>G (EIF2B4)	ENSP00000394869.2:p.Leu445Arg
ENST00000478311.1:n.267T>G (EIF2B4)
ENST00000493344.6:c.1337T>G (EIF2B4)	ENSP00000429323.1:p.Leu446Arg
ENST00000616081.4:c.1265T>G (EIF2B4)	ENSP00000477710.1:p.Leu422Arg
ENST00000622434.4:c.*540T>G (EIF2B4)	ENSP00000479991.1:n.*540T>G
NM_001034116.1:c.1274T>G (EIF2B4)	NP_001029288.1:p.Leu425Arg
NM_015636.3:c.1271T>G (EIF2B4)	NP_056451.3:p.Leu424Arg
NM_172195.3:c.1334T>G (EIF2B4)	NP_751945.2:p.Leu445Arg
XM_005264632.1:c.1229T>G (EIF2B4)	XP_005264689.1:p.Leu410Arg
XM_006712132.1:c.1226T>G (EIF2B4)	XP_006712195.1:p.Leu409Arg
XM_011533147.1:c.656T>G (EIF2B4)	XP_011531449.1:p.Leu219Arg
XR_939868.1:n.1772-2608A>C (GTF3C2-AS2)
NM_001318965.1:c.1337T>G (EIF2B4)	NP_001305894.1:p.Leu446Arg
NM_001318966.1:c.1229T>G (EIF2B4)	NP_001305895.1:p.Leu410Arg
NM_001318967.1:c.1181T>G (EIF2B4)	NP_001305896.1:p.Leu394Arg
NM_001318968.1:c.689T>G (EIF2B4)	NP_001305897.1:p.Leu230Arg
NM_001318969.1:c.656T>G (EIF2B4)	NP_001305898.1:p.Leu219Arg
XM_011533147.2:c.656T>G (EIF2B4)	XP_011531449.1:p.Leu219Arg
NM_001034116.2:c.1274T>G (EIF2B4) MANE Select	NP_001029288.1:p.Leu425Arg
NM_001318965.2:c.1337T>G (EIF2B4)	NP_001305894.1:p.Leu446Arg
NM_001318966.2:c.1229T>G (EIF2B4)	NP_001305895.1:p.Leu410Arg
NM_001318967.2:c.1181T>G (EIF2B4)	NP_001305896.1:p.Leu394Arg
NM_001318968.2:c.689T>G (EIF2B4)	NP_001305897.1:p.Leu230Arg
NM_001318969.2:c.656T>G (EIF2B4)	NP_001305898.1:p.Leu219Arg
NM_015636.4:c.1271T>G (EIF2B4)	NP_056451.3:p.Leu424Arg
NM_172195.4:c.1334T>G (EIF2B4)	NP_751945.2:p.Leu445Arg