Canonical Allele Identifier: CA346197483

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• dbSNP Id: rs1681891508
• gnomAD v4: 2-27366772-T-G
• MyVariant Identifiers: chr2:g.27589639T>G (hg19) ; chr2:g.27366772T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27366772T>G , CM000664.2:g.27366772T>G	GRCh38
NC_000002.11:g.27589639T>G , CM000664.1:g.27589639T>G	GRCh37
NC_000002.10:g.27443143T>G	NCBI36
NG_009305.1:g.8686A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000347454.9:c.1178A>C (EIF2B4) MANE Select	ENSP00000233552.6:p.Tyr393Ser
ENST00000347454.8:c.1178A>C (EIF2B4)	ENSP00000233552.5:p.Tyr393Ser
ENST00000405940.6:c.*444A>C (EIF2B4)	ENSP00000384375.2:n.*444A>C
ENST00000417567.1:c.752A>C (EIF2B4)
ENST00000445933.6:c.1175A>C (EIF2B4)	ENSP00000394397.2:p.Tyr392Ser
ENST00000451130.6:c.1238A>C (EIF2B4)	ENSP00000394869.2:p.Tyr413Ser
ENST00000475582.5:n.3079A>C (EIF2B4)
ENST00000493344.6:c.1241A>C (EIF2B4)	ENSP00000429323.1:p.Tyr414Ser
ENST00000616081.4:c.1169A>C (EIF2B4)	ENSP00000477710.1:p.Tyr390Ser
ENST00000622434.4:c.*444A>C (EIF2B4)	ENSP00000479991.1:n.*444A>C
NM_001034116.1:c.1178A>C (EIF2B4)	NP_001029288.1:p.Tyr393Ser
NM_015636.3:c.1175A>C (EIF2B4)	NP_056451.3:p.Tyr392Ser
NM_172195.3:c.1238A>C (EIF2B4)	NP_751945.2:p.Tyr413Ser
XM_005264632.1:c.1133A>C (EIF2B4)	XP_005264689.1:p.Tyr378Ser
XM_006712132.1:c.1130A>C (EIF2B4)	XP_006712195.1:p.Tyr377Ser
XM_011533147.1:c.560A>C (EIF2B4)	XP_011531449.1:p.Tyr187Ser
XR_939868.1:n.1772-652T>G (GTF3C2-AS2)
NM_001318965.1:c.1241A>C (EIF2B4)	NP_001305894.1:p.Tyr414Ser
NM_001318966.1:c.1133A>C (EIF2B4)	NP_001305895.1:p.Tyr378Ser
NM_001318967.1:c.1085A>C (EIF2B4)	NP_001305896.1:p.Tyr362Ser
NM_001318968.1:c.593A>C (EIF2B4)	NP_001305897.1:p.Tyr198Ser
NM_001318969.1:c.560A>C (EIF2B4)	NP_001305898.1:p.Tyr187Ser
XM_011533147.2:c.560A>C (EIF2B4)	XP_011531449.1:p.Tyr187Ser
NM_001034116.2:c.1178A>C (EIF2B4) MANE Select	NP_001029288.1:p.Tyr393Ser
NM_001318965.2:c.1241A>C (EIF2B4)	NP_001305894.1:p.Tyr414Ser
NM_001318966.2:c.1133A>C (EIF2B4)	NP_001305895.1:p.Tyr378Ser
NM_001318967.2:c.1085A>C (EIF2B4)	NP_001305896.1:p.Tyr362Ser
NM_001318968.2:c.593A>C (EIF2B4)	NP_001305897.1:p.Tyr198Ser
NM_001318969.2:c.560A>C (EIF2B4)	NP_001305898.1:p.Tyr187Ser
NM_015636.4:c.1175A>C (EIF2B4)	NP_056451.3:p.Tyr392Ser
NM_172195.4:c.1238A>C (EIF2B4)	NP_751945.2:p.Tyr413Ser