Canonical Allele Identifier: CA346197279

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• dbSNP Id: rs1406758215
• gnomAD v2: 2-27587731-A-G
• gnomAD v3: 2-27364864-A-G
• gnomAD v4: 2-27364864-A-G
• MyVariant Identifiers: chr2:g.27587731A>G (hg19) ; chr2:g.27364864A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364864A>G , CM000664.2:g.27364864A>G	GRCh38
NC_000002.11:g.27587731A>G , CM000664.1:g.27587731A>G	GRCh37
NC_000002.10:g.27441235A>G	NCBI36
NG_009305.1:g.10594T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1226T>C (EIF2B4) MANE Select	ENSP00000233552.6:p.Leu409Ser
ENST00000347454.8:c.1226T>C (EIF2B4)	ENSP00000233552.5:p.Leu409Ser
ENST00000405940.6:c.*492T>C (EIF2B4)	ENSP00000384375.2:n.*492T>C
ENST00000445933.6:c.1223T>C (EIF2B4)	ENSP00000394397.2:p.Leu408Ser
ENST00000451130.6:c.1286T>C (EIF2B4)	ENSP00000394869.2:p.Leu429Ser
ENST00000478311.1:n.219T>C (EIF2B4)
ENST00000493344.6:c.1289T>C (EIF2B4)	ENSP00000429323.1:p.Leu430Ser
ENST00000616081.4:c.1217T>C (EIF2B4)	ENSP00000477710.1:p.Leu406Ser
ENST00000622434.4:c.*492T>C (EIF2B4)	ENSP00000479991.1:n.*492T>C
NM_001034116.1:c.1226T>C (EIF2B4)	NP_001029288.1:p.Leu409Ser
NM_015636.3:c.1223T>C (EIF2B4)	NP_056451.3:p.Leu408Ser
NM_172195.3:c.1286T>C (EIF2B4)	NP_751945.2:p.Leu429Ser
XM_005264632.1:c.1181T>C (EIF2B4)	XP_005264689.1:p.Leu394Ser
XM_006712132.1:c.1178T>C (EIF2B4)	XP_006712195.1:p.Leu393Ser
XM_011533147.1:c.608T>C (EIF2B4)	XP_011531449.1:p.Leu203Ser
XR_939868.1:n.1772-2560A>G (GTF3C2-AS2)
NM_001318965.1:c.1289T>C (EIF2B4)	NP_001305894.1:p.Leu430Ser
NM_001318966.1:c.1181T>C (EIF2B4)	NP_001305895.1:p.Leu394Ser
NM_001318967.1:c.1133T>C (EIF2B4)	NP_001305896.1:p.Leu378Ser
NM_001318968.1:c.641T>C (EIF2B4)	NP_001305897.1:p.Leu214Ser
NM_001318969.1:c.608T>C (EIF2B4)	NP_001305898.1:p.Leu203Ser
XM_011533147.2:c.608T>C (EIF2B4)	XP_011531449.1:p.Leu203Ser
NM_001034116.2:c.1226T>C (EIF2B4) MANE Select	NP_001029288.1:p.Leu409Ser
NM_001318965.2:c.1289T>C (EIF2B4)	NP_001305894.1:p.Leu430Ser
NM_001318966.2:c.1181T>C (EIF2B4)	NP_001305895.1:p.Leu394Ser
NM_001318967.2:c.1133T>C (EIF2B4)	NP_001305896.1:p.Leu378Ser
NM_001318968.2:c.641T>C (EIF2B4)	NP_001305897.1:p.Leu214Ser
NM_001318969.2:c.608T>C (EIF2B4)	NP_001305898.1:p.Leu203Ser
NM_015636.4:c.1223T>C (EIF2B4)	NP_056451.3:p.Leu408Ser
NM_172195.4:c.1286T>C (EIF2B4)	NP_751945.2:p.Leu429Ser