Canonical Allele Identifier: CA44511258

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• ClinVar Variation Id: 1919324
• ClinVar RCV Id: RCV002594766
• dbSNP Id: rs555801578
• gnomAD v2: 2-27589609-T-A
• gnomAD v3: 2-27366742-T-A
• gnomAD v4: 2-27366742-T-A
• MyVariant Identifiers: chr2:g.27589609T>A (hg19) ; chr2:g.27366742T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27366742T>A , CM000664.2:g.27366742T>A	GRCh38
NC_000002.11:g.27589609T>A , CM000664.1:g.27589609T>A	GRCh37
NC_000002.10:g.27443113T>A	NCBI36
NG_009305.1:g.8716A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000347454.9:c.1191+17A>T (EIF2B4) MANE Select	ENSP00000233552.6:n.1191+17A>T
ENST00000347454.8:c.1191+17A>T (EIF2B4)	ENSP00000233552.5:n.1191+17A>T
ENST00000405940.6:c.*457+17A>T (EIF2B4)	ENSP00000384375.2:n.*457+17A>T
ENST00000445933.6:c.1188+17A>T (EIF2B4)	ENSP00000394397.2:n.1188+17A>T
ENST00000451130.6:c.1251+17A>T (EIF2B4)	ENSP00000394869.2:n.1251+17A>T
ENST00000475582.5:n.3109A>T (EIF2B4)
ENST00000493344.6:c.1254+17A>T (EIF2B4)	ENSP00000429323.1:n.1254+17A>T
ENST00000616081.4:c.1182+17A>T (EIF2B4)	ENSP00000477710.1:n.1182+17A>T
ENST00000622434.4:c.*457+17A>T (EIF2B4)	ENSP00000479991.1:n.*457+17A>T
NM_001034116.1:c.1191+17A>T (EIF2B4)	NP_001029288.1:n.1191+17A>T
NM_015636.3:c.1188+17A>T (EIF2B4)	NP_056451.3:n.1188+17A>T
NM_172195.3:c.1251+17A>T (EIF2B4)	NP_751945.2:n.1251+17A>T
XM_005264632.1:c.1146+17A>T (EIF2B4)	XP_005264689.1:n.1146+17A>T
XM_006712132.1:c.1143+17A>T (EIF2B4)	XP_006712195.1:n.1143+17A>T
XM_011533147.1:c.573+17A>T (EIF2B4)	XP_011531449.1:n.573+17A>T
XR_939868.1:n.1772-682T>A (GTF3C2-AS2)
NM_001318965.1:c.1254+17A>T (EIF2B4)	NP_001305894.1:n.1254+17A>T
NM_001318966.1:c.1146+17A>T (EIF2B4)	NP_001305895.1:n.1146+17A>T
NM_001318967.1:c.1098+17A>T (EIF2B4)	NP_001305896.1:n.1098+17A>T
NM_001318968.1:c.606+17A>T (EIF2B4)	NP_001305897.1:n.606+17A>T
NM_001318969.1:c.573+17A>T (EIF2B4)	NP_001305898.1:n.573+17A>T
XM_011533147.2:c.573+17A>T (EIF2B4)	XP_011531449.1:n.573+17A>T
NM_001034116.2:c.1191+17A>T (EIF2B4) MANE Select	NP_001029288.1:n.1191+17A>T
NM_001318965.2:c.1254+17A>T (EIF2B4)	NP_001305894.1:n.1254+17A>T
NM_001318966.2:c.1146+17A>T (EIF2B4)	NP_001305895.1:n.1146+17A>T
NM_001318967.2:c.1098+17A>T (EIF2B4)	NP_001305896.1:n.1098+17A>T
NM_001318968.2:c.606+17A>T (EIF2B4)	NP_001305897.1:n.606+17A>T
NM_001318969.2:c.573+17A>T (EIF2B4)	NP_001305898.1:n.573+17A>T
NM_015636.4:c.1188+17A>T (EIF2B4)	NP_056451.3:n.1188+17A>T
NM_172195.4:c.1251+17A>T (EIF2B4)	NP_751945.2:n.1251+17A>T