Canonical Allele Identifier: CA346197097

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• MyVariant Identifiers: chr2:g.27587669G>C (hg19) ; chr2:g.27364802G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364802G>C , CM000664.2:g.27364802G>C	GRCh38
NC_000002.11:g.27587669G>C , CM000664.1:g.27587669G>C	GRCh37
NC_000002.10:g.27441173G>C	NCBI36
NG_009305.1:g.10656C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1288C>G (EIF2B4) MANE Select	ENSP00000233552.6:p.His430Asp
ENST00000347454.8:c.1288C>G (EIF2B4)	ENSP00000233552.5:p.His430Asp
ENST00000405940.6:c.*554C>G (EIF2B4)	ENSP00000384375.2:n.*554C>G
ENST00000445933.6:c.1285C>G (EIF2B4)	ENSP00000394397.2:p.His429Asp
ENST00000451130.6:c.1348C>G (EIF2B4)	ENSP00000394869.2:p.His450Asp
ENST00000478311.1:n.281C>G (EIF2B4)
ENST00000493344.6:c.1351C>G (EIF2B4)	ENSP00000429323.1:p.His451Asp
ENST00000616081.4:c.1279C>G (EIF2B4)	ENSP00000477710.1:p.His427Asp
ENST00000622434.4:c.*554C>G (EIF2B4)	ENSP00000479991.1:n.*554C>G
NM_001034116.1:c.1288C>G (EIF2B4)	NP_001029288.1:p.His430Asp
NM_015636.3:c.1285C>G (EIF2B4)	NP_056451.3:p.His429Asp
NM_172195.3:c.1348C>G (EIF2B4)	NP_751945.2:p.His450Asp
XM_005264632.1:c.1243C>G (EIF2B4)	XP_005264689.1:p.His415Asp
XM_006712132.1:c.1240C>G (EIF2B4)	XP_006712195.1:p.His414Asp
XM_011533147.1:c.670C>G (EIF2B4)	XP_011531449.1:p.His224Asp
XR_939868.1:n.1772-2622G>C (GTF3C2-AS2)
NM_001318965.1:c.1351C>G (EIF2B4)	NP_001305894.1:p.His451Asp
NM_001318966.1:c.1243C>G (EIF2B4)	NP_001305895.1:p.His415Asp
NM_001318967.1:c.1195C>G (EIF2B4)	NP_001305896.1:p.His399Asp
NM_001318968.1:c.703C>G (EIF2B4)	NP_001305897.1:p.His235Asp
NM_001318969.1:c.670C>G (EIF2B4)	NP_001305898.1:p.His224Asp
XM_011533147.2:c.670C>G (EIF2B4)	XP_011531449.1:p.His224Asp
NM_001034116.2:c.1288C>G (EIF2B4) MANE Select	NP_001029288.1:p.His430Asp
NM_001318965.2:c.1351C>G (EIF2B4)	NP_001305894.1:p.His451Asp
NM_001318966.2:c.1243C>G (EIF2B4)	NP_001305895.1:p.His415Asp
NM_001318967.2:c.1195C>G (EIF2B4)	NP_001305896.1:p.His399Asp
NM_001318968.2:c.703C>G (EIF2B4)	NP_001305897.1:p.His235Asp
NM_001318969.2:c.670C>G (EIF2B4)	NP_001305898.1:p.His224Asp
NM_015636.4:c.1285C>G (EIF2B4)	NP_056451.3:p.His429Asp
NM_172195.4:c.1348C>G (EIF2B4)	NP_751945.2:p.His450Asp