Canonical Allele Identifier: CA346197217

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• MyVariant Identifiers: chr2:g.27587710G>C (hg19) ; chr2:g.27364843G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364843G>C , CM000664.2:g.27364843G>C	GRCh38
NC_000002.11:g.27587710G>C , CM000664.1:g.27587710G>C	GRCh37
NC_000002.10:g.27441214G>C	NCBI36
NG_009305.1:g.10615C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1247C>G (EIF2B4) MANE Select	ENSP00000233552.6:p.Ser416Ter
ENST00000347454.8:c.1247C>G (EIF2B4)	ENSP00000233552.5:p.Ser416Ter
ENST00000405940.6:c.*513C>G (EIF2B4)	ENSP00000384375.2:n.*513C>G
ENST00000445933.6:c.1244C>G (EIF2B4)	ENSP00000394397.2:p.Ser415Ter
ENST00000451130.6:c.1307C>G (EIF2B4)	ENSP00000394869.2:p.Ser436Ter
ENST00000478311.1:n.240C>G (EIF2B4)
ENST00000493344.6:c.1310C>G (EIF2B4)	ENSP00000429323.1:p.Ser437Ter
ENST00000616081.4:c.1238C>G (EIF2B4)	ENSP00000477710.1:p.Ser413Ter
ENST00000622434.4:c.*513C>G (EIF2B4)	ENSP00000479991.1:n.*513C>G
NM_001034116.1:c.1247C>G (EIF2B4)	NP_001029288.1:p.Ser416Ter
NM_015636.3:c.1244C>G (EIF2B4)	NP_056451.3:p.Ser415Ter
NM_172195.3:c.1307C>G (EIF2B4)	NP_751945.2:p.Ser436Ter
XM_005264632.1:c.1202C>G (EIF2B4)	XP_005264689.1:p.Ser401Ter
XM_006712132.1:c.1199C>G (EIF2B4)	XP_006712195.1:p.Ser400Ter
XM_011533147.1:c.629C>G (EIF2B4)	XP_011531449.1:p.Ser210Ter
XR_939868.1:n.1772-2581G>C (GTF3C2-AS2)
NM_001318965.1:c.1310C>G (EIF2B4)	NP_001305894.1:p.Ser437Ter
NM_001318966.1:c.1202C>G (EIF2B4)	NP_001305895.1:p.Ser401Ter
NM_001318967.1:c.1154C>G (EIF2B4)	NP_001305896.1:p.Ser385Ter
NM_001318968.1:c.662C>G (EIF2B4)	NP_001305897.1:p.Ser221Ter
NM_001318969.1:c.629C>G (EIF2B4)	NP_001305898.1:p.Ser210Ter
XM_011533147.2:c.629C>G (EIF2B4)	XP_011531449.1:p.Ser210Ter
NM_001034116.2:c.1247C>G (EIF2B4) MANE Select	NP_001029288.1:p.Ser416Ter
NM_001318965.2:c.1310C>G (EIF2B4)	NP_001305894.1:p.Ser437Ter
NM_001318966.2:c.1202C>G (EIF2B4)	NP_001305895.1:p.Ser401Ter
NM_001318967.2:c.1154C>G (EIF2B4)	NP_001305896.1:p.Ser385Ter
NM_001318968.2:c.662C>G (EIF2B4)	NP_001305897.1:p.Ser221Ter
NM_001318969.2:c.629C>G (EIF2B4)	NP_001305898.1:p.Ser210Ter
NM_015636.4:c.1244C>G (EIF2B4)	NP_056451.3:p.Ser415Ter
NM_172195.4:c.1307C>G (EIF2B4)	NP_751945.2:p.Ser436Ter