Canonical Allele Identifier: CA10614899

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• ClinVar Variation Id: 335535
• ClinVar RCV Id: RCV000331589 ; RCV002519965
• dbSNP Id: rs886055900
• gnomAD v4: 2-27364780-C-A
• MyVariant Identifiers: chr2:g.27587647C>A (hg19) ; chr2:g.27364780C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364780C>A , CM000664.2:g.27364780C>A	GRCh38
NC_000002.11:g.27587647C>A , CM000664.1:g.27587647C>A	GRCh37
NC_000002.10:g.27441151C>A	NCBI36
NG_009305.1:g.10678G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1310G>T (EIF2B4) MANE Select	ENSP00000233552.6:p.Cys437Phe
ENST00000347454.8:c.1310G>T (EIF2B4)	ENSP00000233552.5:p.Cys437Phe
ENST00000405940.6:c.*576G>T (EIF2B4)	ENSP00000384375.2:n.*576G>T
ENST00000445933.6:c.1307G>T (EIF2B4)	ENSP00000394397.2:p.Cys436Phe
ENST00000451130.6:c.1370G>T (EIF2B4)	ENSP00000394869.2:p.Cys457Phe
ENST00000478311.1:n.303G>T (EIF2B4)
ENST00000493344.6:c.1373G>T (EIF2B4)	ENSP00000429323.1:p.Cys458Phe
ENST00000616081.4:c.1301G>T (EIF2B4)	ENSP00000477710.1:p.Cys434Phe
ENST00000622434.4:c.*576G>T (EIF2B4)	ENSP00000479991.1:n.*576G>T
NM_001034116.1:c.1310G>T (EIF2B4)	NP_001029288.1:p.Cys437Phe
NM_015636.3:c.1307G>T (EIF2B4)	NP_056451.3:p.Cys436Phe
NM_172195.3:c.1370G>T (EIF2B4)	NP_751945.2:p.Cys457Phe
XM_005264632.1:c.1265G>T (EIF2B4)	XP_005264689.1:p.Cys422Phe
XM_006712132.1:c.1262G>T (EIF2B4)	XP_006712195.1:p.Cys421Phe
XM_011533147.1:c.692G>T (EIF2B4)	XP_011531449.1:p.Cys231Phe
XR_939868.1:n.1772-2644C>A (GTF3C2-AS2)
NM_001318965.1:c.1373G>T (EIF2B4)	NP_001305894.1:p.Cys458Phe
NM_001318966.1:c.1265G>T (EIF2B4)	NP_001305895.1:p.Cys422Phe
NM_001318967.1:c.1217G>T (EIF2B4)	NP_001305896.1:p.Cys406Phe
NM_001318968.1:c.725G>T (EIF2B4)	NP_001305897.1:p.Cys242Phe
NM_001318969.1:c.692G>T (EIF2B4)	NP_001305898.1:p.Cys231Phe
XM_011533147.2:c.692G>T (EIF2B4)	XP_011531449.1:p.Cys231Phe
NM_001034116.2:c.1310G>T (EIF2B4) MANE Select	NP_001029288.1:p.Cys437Phe
NM_001318965.2:c.1373G>T (EIF2B4)	NP_001305894.1:p.Cys458Phe
NM_001318966.2:c.1265G>T (EIF2B4)	NP_001305895.1:p.Cys422Phe
NM_001318967.2:c.1217G>T (EIF2B4)	NP_001305896.1:p.Cys406Phe
NM_001318968.2:c.725G>T (EIF2B4)	NP_001305897.1:p.Cys242Phe
NM_001318969.2:c.692G>T (EIF2B4)	NP_001305898.1:p.Cys231Phe
NM_015636.4:c.1307G>T (EIF2B4)	NP_056451.3:p.Cys436Phe
NM_172195.4:c.1370G>T (EIF2B4)	NP_751945.2:p.Cys457Phe