Canonical Allele Identifier: CA346197296

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• dbSNP Id: rs1178064509
• gnomAD v2: 2-27587737-G-C
• gnomAD v4: 2-27364870-G-C
• MyVariant Identifiers: chr2:g.27587737G>C (hg19) ; chr2:g.27364870G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364870G>C , CM000664.2:g.27364870G>C	GRCh38
NC_000002.11:g.27587737G>C , CM000664.1:g.27587737G>C	GRCh37
NC_000002.10:g.27441241G>C	NCBI36
NG_009305.1:g.10588C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1220C>G (EIF2B4) MANE Select	ENSP00000233552.6:p.Ala407Gly
ENST00000347454.8:c.1220C>G (EIF2B4)	ENSP00000233552.5:p.Ala407Gly
ENST00000405940.6:c.*486C>G (EIF2B4)	ENSP00000384375.2:n.*486C>G
ENST00000445933.6:c.1217C>G (EIF2B4)	ENSP00000394397.2:p.Ala406Gly
ENST00000451130.6:c.1280C>G (EIF2B4)	ENSP00000394869.2:p.Ala427Gly
ENST00000478311.1:n.213C>G (EIF2B4)
ENST00000493344.6:c.1283C>G (EIF2B4)	ENSP00000429323.1:p.Ala428Gly
ENST00000616081.4:c.1211C>G (EIF2B4)	ENSP00000477710.1:p.Ala404Gly
ENST00000622434.4:c.*486C>G (EIF2B4)	ENSP00000479991.1:n.*486C>G
NM_001034116.1:c.1220C>G (EIF2B4)	NP_001029288.1:p.Ala407Gly
NM_015636.3:c.1217C>G (EIF2B4)	NP_056451.3:p.Ala406Gly
NM_172195.3:c.1280C>G (EIF2B4)	NP_751945.2:p.Ala427Gly
XM_005264632.1:c.1175C>G (EIF2B4)	XP_005264689.1:p.Ala392Gly
XM_006712132.1:c.1172C>G (EIF2B4)	XP_006712195.1:p.Ala391Gly
XM_011533147.1:c.602C>G (EIF2B4)	XP_011531449.1:p.Ala201Gly
XR_939868.1:n.1772-2554G>C (GTF3C2-AS2)
NM_001318965.1:c.1283C>G (EIF2B4)	NP_001305894.1:p.Ala428Gly
NM_001318966.1:c.1175C>G (EIF2B4)	NP_001305895.1:p.Ala392Gly
NM_001318967.1:c.1127C>G (EIF2B4)	NP_001305896.1:p.Ala376Gly
NM_001318968.1:c.635C>G (EIF2B4)	NP_001305897.1:p.Ala212Gly
NM_001318969.1:c.602C>G (EIF2B4)	NP_001305898.1:p.Ala201Gly
XM_011533147.2:c.602C>G (EIF2B4)	XP_011531449.1:p.Ala201Gly
NM_001034116.2:c.1220C>G (EIF2B4) MANE Select	NP_001029288.1:p.Ala407Gly
NM_001318965.2:c.1283C>G (EIF2B4)	NP_001305894.1:p.Ala428Gly
NM_001318966.2:c.1175C>G (EIF2B4)	NP_001305895.1:p.Ala392Gly
NM_001318967.2:c.1127C>G (EIF2B4)	NP_001305896.1:p.Ala376Gly
NM_001318968.2:c.635C>G (EIF2B4)	NP_001305897.1:p.Ala212Gly
NM_001318969.2:c.602C>G (EIF2B4)	NP_001305898.1:p.Ala201Gly
NM_015636.4:c.1217C>G (EIF2B4)	NP_056451.3:p.Ala406Gly
NM_172195.4:c.1280C>G (EIF2B4)	NP_751945.2:p.Ala427Gly