Canonical Allele Identifier: CA1576605

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• ClinVar Variation Id: 2131836
• ClinVar RCV Id: RCV003052546
• dbSNP Id: rs777297913
• ExAC: 2:27587646 G / A
• gnomAD v2: 2-27587646-G-A
• gnomAD v3: 2-27364779-G-A
• gnomAD v4: 2-27364779-G-A
• MyVariant Identifiers: chr2:g.27587646G>A (hg19) ; chr2:g.27364779G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364779G>A , CM000664.2:g.27364779G>A	GRCh38
NC_000002.11:g.27587646G>A , CM000664.1:g.27587646G>A	GRCh37
NC_000002.10:g.27441150G>A	NCBI36
NG_009305.1:g.10679C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1311C>T (EIF2B4) MANE Select	ENSP00000233552.6:p.Cys437=
ENST00000347454.8:c.1311C>T (EIF2B4)	ENSP00000233552.5:p.Cys437=
ENST00000405940.6:c.*577C>T (EIF2B4)	ENSP00000384375.2:n.*577C>T
ENST00000445933.6:c.1308C>T (EIF2B4)	ENSP00000394397.2:p.Cys436=
ENST00000451130.6:c.1371C>T (EIF2B4)	ENSP00000394869.2:p.Cys457=
ENST00000478311.1:n.304C>T (EIF2B4)
ENST00000493344.6:c.1374C>T (EIF2B4)	ENSP00000429323.1:p.Cys458=
ENST00000616081.4:c.1302C>T (EIF2B4)	ENSP00000477710.1:p.Cys434=
ENST00000622434.4:c.*577C>T (EIF2B4)	ENSP00000479991.1:n.*577C>T
NM_001034116.1:c.1311C>T (EIF2B4)	NP_001029288.1:p.Cys437=
NM_015636.3:c.1308C>T (EIF2B4)	NP_056451.3:p.Cys436=
NM_172195.3:c.1371C>T (EIF2B4)	NP_751945.2:p.Cys457=
XM_005264632.1:c.1266C>T (EIF2B4)	XP_005264689.1:p.Cys422=
XM_006712132.1:c.1263C>T (EIF2B4)	XP_006712195.1:p.Cys421=
XM_011533147.1:c.693C>T (EIF2B4)	XP_011531449.1:p.Cys231=
XR_939868.1:n.1772-2645G>A (GTF3C2-AS2)
NM_001318965.1:c.1374C>T (EIF2B4)	NP_001305894.1:p.Cys458=
NM_001318966.1:c.1266C>T (EIF2B4)	NP_001305895.1:p.Cys422=
NM_001318967.1:c.1218C>T (EIF2B4)	NP_001305896.1:p.Cys406=
NM_001318968.1:c.726C>T (EIF2B4)	NP_001305897.1:p.Cys242=
NM_001318969.1:c.693C>T (EIF2B4)	NP_001305898.1:p.Cys231=
XM_011533147.2:c.693C>T (EIF2B4)	XP_011531449.1:p.Cys231=
NM_001034116.2:c.1311C>T (EIF2B4) MANE Select	NP_001029288.1:p.Cys437=
NM_001318965.2:c.1374C>T (EIF2B4)	NP_001305894.1:p.Cys458=
NM_001318966.2:c.1266C>T (EIF2B4)	NP_001305895.1:p.Cys422=
NM_001318967.2:c.1218C>T (EIF2B4)	NP_001305896.1:p.Cys406=
NM_001318968.2:c.726C>T (EIF2B4)	NP_001305897.1:p.Cys242=
NM_001318969.2:c.693C>T (EIF2B4)	NP_001305898.1:p.Cys231=
NM_015636.4:c.1308C>T (EIF2B4)	NP_056451.3:p.Cys436=
NM_172195.4:c.1371C>T (EIF2B4)	NP_751945.2:p.Cys457=