Canonical Allele Identifier: CA346197247

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• MyVariant Identifiers: chr2:g.27587719G>C (hg19) ; chr2:g.27364852G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364852G>C , CM000664.2:g.27364852G>C	GRCh38
NC_000002.11:g.27587719G>C , CM000664.1:g.27587719G>C	GRCh37
NC_000002.10:g.27441223G>C	NCBI36
NG_009305.1:g.10606C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1238C>G (EIF2B4) MANE Select	ENSP00000233552.6:p.Ser413Cys
ENST00000347454.8:c.1238C>G (EIF2B4)	ENSP00000233552.5:p.Ser413Cys
ENST00000405940.6:c.*504C>G (EIF2B4)	ENSP00000384375.2:n.*504C>G
ENST00000445933.6:c.1235C>G (EIF2B4)	ENSP00000394397.2:p.Ser412Cys
ENST00000451130.6:c.1298C>G (EIF2B4)	ENSP00000394869.2:p.Ser433Cys
ENST00000478311.1:n.231C>G (EIF2B4)
ENST00000493344.6:c.1301C>G (EIF2B4)	ENSP00000429323.1:p.Ser434Cys
ENST00000616081.4:c.1229C>G (EIF2B4)	ENSP00000477710.1:p.Ser410Cys
ENST00000622434.4:c.*504C>G (EIF2B4)	ENSP00000479991.1:n.*504C>G
NM_001034116.1:c.1238C>G (EIF2B4)	NP_001029288.1:p.Ser413Cys
NM_015636.3:c.1235C>G (EIF2B4)	NP_056451.3:p.Ser412Cys
NM_172195.3:c.1298C>G (EIF2B4)	NP_751945.2:p.Ser433Cys
XM_005264632.1:c.1193C>G (EIF2B4)	XP_005264689.1:p.Ser398Cys
XM_006712132.1:c.1190C>G (EIF2B4)	XP_006712195.1:p.Ser397Cys
XM_011533147.1:c.620C>G (EIF2B4)	XP_011531449.1:p.Ser207Cys
XR_939868.1:n.1772-2572G>C (GTF3C2-AS2)
NM_001318965.1:c.1301C>G (EIF2B4)	NP_001305894.1:p.Ser434Cys
NM_001318966.1:c.1193C>G (EIF2B4)	NP_001305895.1:p.Ser398Cys
NM_001318967.1:c.1145C>G (EIF2B4)	NP_001305896.1:p.Ser382Cys
NM_001318968.1:c.653C>G (EIF2B4)	NP_001305897.1:p.Ser218Cys
NM_001318969.1:c.620C>G (EIF2B4)	NP_001305898.1:p.Ser207Cys
XM_011533147.2:c.620C>G (EIF2B4)	XP_011531449.1:p.Ser207Cys
NM_001034116.2:c.1238C>G (EIF2B4) MANE Select	NP_001029288.1:p.Ser413Cys
NM_001318965.2:c.1301C>G (EIF2B4)	NP_001305894.1:p.Ser434Cys
NM_001318966.2:c.1193C>G (EIF2B4)	NP_001305895.1:p.Ser398Cys
NM_001318967.2:c.1145C>G (EIF2B4)	NP_001305896.1:p.Ser382Cys
NM_001318968.2:c.653C>G (EIF2B4)	NP_001305897.1:p.Ser218Cys
NM_001318969.2:c.620C>G (EIF2B4)	NP_001305898.1:p.Ser207Cys
NM_015636.4:c.1235C>G (EIF2B4)	NP_056451.3:p.Ser412Cys
NM_172195.4:c.1298C>G (EIF2B4)	NP_751945.2:p.Ser433Cys