Canonical Allele Identifier: CA1576580

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• ClinVar Variation Id: 335532
• ClinVar RCV Id: RCV000261087 ; RCV000516265 ; RCV000958286 ; RCV003972420
• dbSNP Id: rs148810263
• ExAC: 2:27587447 T / C
• gnomAD v2: 2-27587447-T-C
• gnomAD v3: 2-27364580-T-C
• gnomAD v4: 2-27364580-T-C
• MyVariant Identifiers: chr2:g.27587447T>C (hg19) ; chr2:g.27364580T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364580T>C , CM000664.2:g.27364580T>C	GRCh38
NC_000002.11:g.27587447T>C , CM000664.1:g.27587447T>C	GRCh37
NC_000002.10:g.27440951T>C	NCBI36
NG_009305.1:g.10878A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000347454.9:c.1392A>G (EIF2B4) MANE Select	ENSP00000233552.6:p.Gln464=
ENST00000347454.8:c.1392A>G (EIF2B4)	ENSP00000233552.5:p.Gln464=
ENST00000405940.6:c.*658A>G (EIF2B4)	ENSP00000384375.2:n.*658A>G
ENST00000445933.6:c.1389A>G (EIF2B4)	ENSP00000394397.2:p.Gln463=
ENST00000451130.6:c.1452A>G (EIF2B4)	ENSP00000394869.2:p.Gln484=
ENST00000478311.1:n.385A>G (EIF2B4)
ENST00000493344.6:c.1455A>G (EIF2B4)	ENSP00000429323.1:p.Gln485=
ENST00000616081.4:c.1383A>G (EIF2B4)	ENSP00000477710.1:p.Gln461=
ENST00000622434.4:c.*658A>G (EIF2B4)	ENSP00000479991.1:n.*658A>G
NM_001034116.1:c.1392A>G (EIF2B4)	NP_001029288.1:p.Gln464=
NM_015636.3:c.1389A>G (EIF2B4)	NP_056451.3:p.Gln463=
NM_172195.3:c.1452A>G (EIF2B4)	NP_751945.2:p.Gln484=
XM_005264632.1:c.1347A>G (EIF2B4)	XP_005264689.1:p.Gln449=
XM_006712132.1:c.1344A>G (EIF2B4)	XP_006712195.1:p.Gln448=
XM_011533147.1:c.774A>G (EIF2B4)	XP_011531449.1:p.Gln258=
XR_939868.1:n.1772-2844T>C (GTF3C2-AS2)
NM_001318965.1:c.1455A>G (EIF2B4)	NP_001305894.1:p.Gln485=
NM_001318966.1:c.1347A>G (EIF2B4)	NP_001305895.1:p.Gln449=
NM_001318967.1:c.1299A>G (EIF2B4)	NP_001305896.1:p.Gln433=
NM_001318968.1:c.807A>G (EIF2B4)	NP_001305897.1:p.Gln269=
NM_001318969.1:c.774A>G (EIF2B4)	NP_001305898.1:p.Gln258=
XM_011533147.2:c.774A>G (EIF2B4)	XP_011531449.1:p.Gln258=
NM_001034116.2:c.1392A>G (EIF2B4) MANE Select	NP_001029288.1:p.Gln464=
NM_001318965.2:c.1455A>G (EIF2B4)	NP_001305894.1:p.Gln485=
NM_001318966.2:c.1347A>G (EIF2B4)	NP_001305895.1:p.Gln449=
NM_001318967.2:c.1299A>G (EIF2B4)	NP_001305896.1:p.Gln433=
NM_001318968.2:c.807A>G (EIF2B4)	NP_001305897.1:p.Gln269=
NM_001318969.2:c.774A>G (EIF2B4)	NP_001305898.1:p.Gln258=
NM_015636.4:c.1389A>G (EIF2B4)	NP_056451.3:p.Gln463=
NM_172195.4:c.1452A>G (EIF2B4)	NP_751945.2:p.Gln484=