Canonical Allele Identifier: CA1576611

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• ClinVar Variation Id: 2956387
• ClinVar RCV Id: RCV003814123
• dbSNP Id: rs747532557
• ExAC: 2:27587682 C / T
• gnomAD v2: 2-27587682-C-T
• gnomAD v3: 2-27364815-C-T
• gnomAD v4: 2-27364815-C-T
• MyVariant Identifiers: chr2:g.27587682C>T (hg19) ; chr2:g.27364815C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364815C>T , CM000664.2:g.27364815C>T	GRCh38
NC_000002.11:g.27587682C>T , CM000664.1:g.27587682C>T	GRCh37
NC_000002.10:g.27441186C>T	NCBI36
NG_009305.1:g.10643G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1275G>A (EIF2B4) MANE Select	ENSP00000233552.6:p.Leu425=
ENST00000347454.8:c.1275G>A (EIF2B4)	ENSP00000233552.5:p.Leu425=
ENST00000405940.6:c.*541G>A (EIF2B4)	ENSP00000384375.2:n.*541G>A
ENST00000445933.6:c.1272G>A (EIF2B4)	ENSP00000394397.2:p.Leu424=
ENST00000451130.6:c.1335G>A (EIF2B4)	ENSP00000394869.2:p.Leu445=
ENST00000478311.1:n.268G>A (EIF2B4)
ENST00000493344.6:c.1338G>A (EIF2B4)	ENSP00000429323.1:p.Leu446=
ENST00000616081.4:c.1266G>A (EIF2B4)	ENSP00000477710.1:p.Leu422=
ENST00000622434.4:c.*541G>A (EIF2B4)	ENSP00000479991.1:n.*541G>A
NM_001034116.1:c.1275G>A (EIF2B4)	NP_001029288.1:p.Leu425=
NM_015636.3:c.1272G>A (EIF2B4)	NP_056451.3:p.Leu424=
NM_172195.3:c.1335G>A (EIF2B4)	NP_751945.2:p.Leu445=
XM_005264632.1:c.1230G>A (EIF2B4)	XP_005264689.1:p.Leu410=
XM_006712132.1:c.1227G>A (EIF2B4)	XP_006712195.1:p.Leu409=
XM_011533147.1:c.657G>A (EIF2B4)	XP_011531449.1:p.Leu219=
XR_939868.1:n.1772-2609C>T (GTF3C2-AS2)
NM_001318965.1:c.1338G>A (EIF2B4)	NP_001305894.1:p.Leu446=
NM_001318966.1:c.1230G>A (EIF2B4)	NP_001305895.1:p.Leu410=
NM_001318967.1:c.1182G>A (EIF2B4)	NP_001305896.1:p.Leu394=
NM_001318968.1:c.690G>A (EIF2B4)	NP_001305897.1:p.Leu230=
NM_001318969.1:c.657G>A (EIF2B4)	NP_001305898.1:p.Leu219=
XM_011533147.2:c.657G>A (EIF2B4)	XP_011531449.1:p.Leu219=
NM_001034116.2:c.1275G>A (EIF2B4) MANE Select	NP_001029288.1:p.Leu425=
NM_001318965.2:c.1338G>A (EIF2B4)	NP_001305894.1:p.Leu446=
NM_001318966.2:c.1230G>A (EIF2B4)	NP_001305895.1:p.Leu410=
NM_001318967.2:c.1182G>A (EIF2B4)	NP_001305896.1:p.Leu394=
NM_001318968.2:c.690G>A (EIF2B4)	NP_001305897.1:p.Leu230=
NM_001318969.2:c.657G>A (EIF2B4)	NP_001305898.1:p.Leu219=
NM_015636.4:c.1272G>A (EIF2B4)	NP_056451.3:p.Leu424=
NM_172195.4:c.1335G>A (EIF2B4)	NP_751945.2:p.Leu445=