Canonical Allele Identifier: CA1576616

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• ClinVar Variation Id: 1628202
• ClinVar RCV Id: RCV002125195
• dbSNP Id: rs753573267
• ExAC: 2:27587739 A / G
• gnomAD v2: 2-27587739-A-G
• gnomAD v3: 2-27364872-A-G
• gnomAD v4: 2-27364872-A-G
• MyVariant Identifiers: chr2:g.27587739A>G (hg19) ; chr2:g.27364872A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364872A>G , CM000664.2:g.27364872A>G	GRCh38
NC_000002.11:g.27587739A>G , CM000664.1:g.27587739A>G	GRCh37
NC_000002.10:g.27441243A>G	NCBI36
NG_009305.1:g.10586T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1218T>C (EIF2B4) MANE Select	ENSP00000233552.6:p.His406=
ENST00000347454.8:c.1218T>C (EIF2B4)	ENSP00000233552.5:p.His406=
ENST00000405940.6:c.*484T>C (EIF2B4)	ENSP00000384375.2:n.*484T>C
ENST00000445933.6:c.1215T>C (EIF2B4)	ENSP00000394397.2:p.His405=
ENST00000451130.6:c.1278T>C (EIF2B4)	ENSP00000394869.2:p.His426=
ENST00000478311.1:n.211T>C (EIF2B4)
ENST00000493344.6:c.1281T>C (EIF2B4)	ENSP00000429323.1:p.His427=
ENST00000616081.4:c.1209T>C (EIF2B4)	ENSP00000477710.1:p.His403=
ENST00000622434.4:c.*484T>C (EIF2B4)	ENSP00000479991.1:n.*484T>C
NM_001034116.1:c.1218T>C (EIF2B4)	NP_001029288.1:p.His406=
NM_015636.3:c.1215T>C (EIF2B4)	NP_056451.3:p.His405=
NM_172195.3:c.1278T>C (EIF2B4)	NP_751945.2:p.His426=
XM_005264632.1:c.1173T>C (EIF2B4)	XP_005264689.1:p.His391=
XM_006712132.1:c.1170T>C (EIF2B4)	XP_006712195.1:p.His390=
XM_011533147.1:c.600T>C (EIF2B4)	XP_011531449.1:p.His200=
XR_939868.1:n.1772-2552A>G (GTF3C2-AS2)
NM_001318965.1:c.1281T>C (EIF2B4)	NP_001305894.1:p.His427=
NM_001318966.1:c.1173T>C (EIF2B4)	NP_001305895.1:p.His391=
NM_001318967.1:c.1125T>C (EIF2B4)	NP_001305896.1:p.His375=
NM_001318968.1:c.633T>C (EIF2B4)	NP_001305897.1:p.His211=
NM_001318969.1:c.600T>C (EIF2B4)	NP_001305898.1:p.His200=
XM_011533147.2:c.600T>C (EIF2B4)	XP_011531449.1:p.His200=
NM_001034116.2:c.1218T>C (EIF2B4) MANE Select	NP_001029288.1:p.His406=
NM_001318965.2:c.1281T>C (EIF2B4)	NP_001305894.1:p.His427=
NM_001318966.2:c.1173T>C (EIF2B4)	NP_001305895.1:p.His391=
NM_001318967.2:c.1125T>C (EIF2B4)	NP_001305896.1:p.His375=
NM_001318968.2:c.633T>C (EIF2B4)	NP_001305897.1:p.His211=
NM_001318969.2:c.600T>C (EIF2B4)	NP_001305898.1:p.His200=
NM_015636.4:c.1215T>C (EIF2B4)	NP_056451.3:p.His405=
NM_172195.4:c.1278T>C (EIF2B4)	NP_751945.2:p.His426=