Canonical Allele Identifier: CA346197173

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• dbSNP Id: rs1285385477
• gnomAD v2: 2-27587693-G-C
• gnomAD v4: 2-27364826-G-C
• MyVariant Identifiers: chr2:g.27587693G>C (hg19) ; chr2:g.27364826G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364826G>C , CM000664.2:g.27364826G>C	GRCh38
NC_000002.11:g.27587693G>C , CM000664.1:g.27587693G>C	GRCh37
NC_000002.10:g.27441197G>C	NCBI36
NG_009305.1:g.10632C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1264C>G (EIF2B4) MANE Select	ENSP00000233552.6:p.Gln422Glu
ENST00000347454.8:c.1264C>G (EIF2B4)	ENSP00000233552.5:p.Gln422Glu
ENST00000405940.6:c.*530C>G (EIF2B4)	ENSP00000384375.2:n.*530C>G
ENST00000445933.6:c.1261C>G (EIF2B4)	ENSP00000394397.2:p.Gln421Glu
ENST00000451130.6:c.1324C>G (EIF2B4)	ENSP00000394869.2:p.Gln442Glu
ENST00000478311.1:n.257C>G (EIF2B4)
ENST00000493344.6:c.1327C>G (EIF2B4)	ENSP00000429323.1:p.Gln443Glu
ENST00000616081.4:c.1255C>G (EIF2B4)	ENSP00000477710.1:p.Gln419Glu
ENST00000622434.4:c.*530C>G (EIF2B4)	ENSP00000479991.1:n.*530C>G
NM_001034116.1:c.1264C>G (EIF2B4)	NP_001029288.1:p.Gln422Glu
NM_015636.3:c.1261C>G (EIF2B4)	NP_056451.3:p.Gln421Glu
NM_172195.3:c.1324C>G (EIF2B4)	NP_751945.2:p.Gln442Glu
XM_005264632.1:c.1219C>G (EIF2B4)	XP_005264689.1:p.Gln407Glu
XM_006712132.1:c.1216C>G (EIF2B4)	XP_006712195.1:p.Gln406Glu
XM_011533147.1:c.646C>G (EIF2B4)	XP_011531449.1:p.Gln216Glu
XR_939868.1:n.1772-2598G>C (GTF3C2-AS2)
NM_001318965.1:c.1327C>G (EIF2B4)	NP_001305894.1:p.Gln443Glu
NM_001318966.1:c.1219C>G (EIF2B4)	NP_001305895.1:p.Gln407Glu
NM_001318967.1:c.1171C>G (EIF2B4)	NP_001305896.1:p.Gln391Glu
NM_001318968.1:c.679C>G (EIF2B4)	NP_001305897.1:p.Gln227Glu
NM_001318969.1:c.646C>G (EIF2B4)	NP_001305898.1:p.Gln216Glu
XM_011533147.2:c.646C>G (EIF2B4)	XP_011531449.1:p.Gln216Glu
NM_001034116.2:c.1264C>G (EIF2B4) MANE Select	NP_001029288.1:p.Gln422Glu
NM_001318965.2:c.1327C>G (EIF2B4)	NP_001305894.1:p.Gln443Glu
NM_001318966.2:c.1219C>G (EIF2B4)	NP_001305895.1:p.Gln407Glu
NM_001318967.2:c.1171C>G (EIF2B4)	NP_001305896.1:p.Gln391Glu
NM_001318968.2:c.679C>G (EIF2B4)	NP_001305897.1:p.Gln227Glu
NM_001318969.2:c.646C>G (EIF2B4)	NP_001305898.1:p.Gln216Glu
NM_015636.4:c.1261C>G (EIF2B4)	NP_056451.3:p.Gln421Glu
NM_172195.4:c.1324C>G (EIF2B4)	NP_751945.2:p.Gln442Glu