Canonical Allele Identifier: CA1576623

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• ClinVar Variation Id: 1640130
• ClinVar RCV Id: RCV002131569
• dbSNP Id: rs534043363
• ExAC: 2:27587781 A / G
• gnomAD v2: 2-27587781-A-G
• gnomAD v3: 2-27364914-A-G
• gnomAD v4: 2-27364914-A-G
• MyVariant Identifiers: chr2:g.27587781A>G (hg19) ; chr2:g.27364914A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364914A>G , CM000664.2:g.27364914A>G	GRCh38
NC_000002.11:g.27587781A>G , CM000664.1:g.27587781A>G	GRCh37
NC_000002.10:g.27441285A>G	NCBI36
NG_009305.1:g.10544T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1192-16T>C (EIF2B4) MANE Select	ENSP00000233552.6:n.1192-16T>C
ENST00000347454.8:c.1192-16T>C (EIF2B4)	ENSP00000233552.5:n.1192-16T>C
ENST00000405940.6:c.*458-16T>C (EIF2B4)	ENSP00000384375.2:n.*458-16T>C
ENST00000445933.6:c.1189-16T>C (EIF2B4)	ENSP00000394397.2:n.1189-16T>C
ENST00000451130.6:c.1252-16T>C (EIF2B4)	ENSP00000394869.2:n.1252-16T>C
ENST00000478311.1:n.169T>C (EIF2B4)
ENST00000493344.6:c.1255-16T>C (EIF2B4)	ENSP00000429323.1:n.1255-16T>C
ENST00000616081.4:c.1183-16T>C (EIF2B4)	ENSP00000477710.1:n.1183-16T>C
ENST00000622434.4:c.*458-16T>C (EIF2B4)	ENSP00000479991.1:n.*458-16T>C
NM_001034116.1:c.1192-16T>C (EIF2B4)	NP_001029288.1:n.1192-16T>C
NM_015636.3:c.1189-16T>C (EIF2B4)	NP_056451.3:n.1189-16T>C
NM_172195.3:c.1252-16T>C (EIF2B4)	NP_751945.2:n.1252-16T>C
XM_005264632.1:c.1147-16T>C (EIF2B4)	XP_005264689.1:n.1147-16T>C
XM_006712132.1:c.1144-16T>C (EIF2B4)	XP_006712195.1:n.1144-16T>C
XM_011533147.1:c.574-16T>C (EIF2B4)	XP_011531449.1:n.574-16T>C
XR_939868.1:n.1772-2510A>G (GTF3C2-AS2)
NM_001318965.1:c.1255-16T>C (EIF2B4)	NP_001305894.1:n.1255-16T>C
NM_001318966.1:c.1147-16T>C (EIF2B4)	NP_001305895.1:n.1147-16T>C
NM_001318967.1:c.1099-16T>C (EIF2B4)	NP_001305896.1:n.1099-16T>C
NM_001318968.1:c.607-16T>C (EIF2B4)	NP_001305897.1:n.607-16T>C
NM_001318969.1:c.574-16T>C (EIF2B4)	NP_001305898.1:n.574-16T>C
XM_011533147.2:c.574-16T>C (EIF2B4)	XP_011531449.1:n.574-16T>C
NM_001034116.2:c.1192-16T>C (EIF2B4) MANE Select	NP_001029288.1:n.1192-16T>C
NM_001318965.2:c.1255-16T>C (EIF2B4)	NP_001305894.1:n.1255-16T>C
NM_001318966.2:c.1147-16T>C (EIF2B4)	NP_001305895.1:n.1147-16T>C
NM_001318967.2:c.1099-16T>C (EIF2B4)	NP_001305896.1:n.1099-16T>C
NM_001318968.2:c.607-16T>C (EIF2B4)	NP_001305897.1:n.607-16T>C
NM_001318969.2:c.574-16T>C (EIF2B4)	NP_001305898.1:n.574-16T>C
NM_015636.4:c.1189-16T>C (EIF2B4)	NP_056451.3:n.1189-16T>C
NM_172195.4:c.1252-16T>C (EIF2B4)	NP_751945.2:n.1252-16T>C