Canonical Allele Identifier: CA2658336172

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• ClinVar Variation Id: 2771759
• ClinVar RCV Id: RCV003574419
• gnomAD v4: 2-27364699-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364699T>C , CM000664.2:g.27364699T>C	GRCh38
NC_000002.11:g.27587566T>C , CM000664.1:g.27587566T>C	GRCh37
NC_000002.10:g.27441070T>C	NCBI36
NG_009305.1:g.10759A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1372+19A>G (EIF2B4) MANE Select	ENSP00000233552.6:n.1372+19A>G
ENST00000347454.8:c.1372+19A>G (EIF2B4)	ENSP00000233552.5:n.1372+19A>G
ENST00000405940.6:c.*638+19A>G (EIF2B4)	ENSP00000384375.2:n.*638+19A>G
ENST00000445933.6:c.1369+19A>G (EIF2B4)	ENSP00000394397.2:n.1369+19A>G
ENST00000451130.6:c.1432+19A>G (EIF2B4)	ENSP00000394869.2:n.1432+19A>G
ENST00000478311.1:n.365+19A>G (EIF2B4)
ENST00000493344.6:c.1435+19A>G (EIF2B4)	ENSP00000429323.1:n.1435+19A>G
ENST00000616081.4:c.1363+19A>G (EIF2B4)	ENSP00000477710.1:n.1363+19A>G
ENST00000622434.4:c.*638+19A>G (EIF2B4)	ENSP00000479991.1:n.*638+19A>G
NM_001034116.1:c.1372+19A>G (EIF2B4)	NP_001029288.1:n.1372+19A>G
NM_015636.3:c.1369+19A>G (EIF2B4)	NP_056451.3:n.1369+19A>G
NM_172195.3:c.1432+19A>G (EIF2B4)	NP_751945.2:n.1432+19A>G
XM_005264632.1:c.1327+19A>G (EIF2B4)	XP_005264689.1:n.1327+19A>G
XM_006712132.1:c.1324+19A>G (EIF2B4)	XP_006712195.1:n.1324+19A>G
XM_011533147.1:c.754+19A>G (EIF2B4)	XP_011531449.1:n.754+19A>G
XR_939868.1:n.1772-2725T>C (GTF3C2-AS2)
NM_001318965.1:c.1435+19A>G (EIF2B4)	NP_001305894.1:n.1435+19A>G
NM_001318966.1:c.1327+19A>G (EIF2B4)	NP_001305895.1:n.1327+19A>G
NM_001318967.1:c.1279+19A>G (EIF2B4)	NP_001305896.1:n.1279+19A>G
NM_001318968.1:c.787+19A>G (EIF2B4)	NP_001305897.1:n.787+19A>G
NM_001318969.1:c.754+19A>G (EIF2B4)	NP_001305898.1:n.754+19A>G
XM_011533147.2:c.754+19A>G (EIF2B4)	XP_011531449.1:n.754+19A>G
NM_001034116.2:c.1372+19A>G (EIF2B4) MANE Select	NP_001029288.1:n.1372+19A>G
NM_001318965.2:c.1435+19A>G (EIF2B4)	NP_001305894.1:n.1435+19A>G
NM_001318966.2:c.1327+19A>G (EIF2B4)	NP_001305895.1:n.1327+19A>G
NM_001318967.2:c.1279+19A>G (EIF2B4)	NP_001305896.1:n.1279+19A>G
NM_001318968.2:c.787+19A>G (EIF2B4)	NP_001305897.1:n.787+19A>G
NM_001318969.2:c.754+19A>G (EIF2B4)	NP_001305898.1:n.754+19A>G
NM_015636.4:c.1369+19A>G (EIF2B4)	NP_056451.3:n.1369+19A>G
NM_172195.4:c.1432+19A>G (EIF2B4)	NP_751945.2:n.1432+19A>G