Canonical Allele Identifier: CA2658336176

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• gnomAD v4: 2-27364765-TTGTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364769_27364772del , CM000664.2:g.27364769_27364772del	GRCh38
NC_000002.11:g.27587636_27587639del , CM000664.1:g.27587636_27587639del	GRCh37
NC_000002.10:g.27441140_27441143del	NCBI36
NG_009305.1:g.10689_10692del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1321_1324del (EIF2B4) MANE Select	ENSP00000233552.6:p.Tyr441SerfsTer16
ENST00000347454.8:c.1321_1324del (EIF2B4)	ENSP00000233552.5:p.Tyr441SerfsTer16
ENST00000405940.6:c.*587_*590del (EIF2B4)	ENSP00000384375.2:n.*587_*590del
ENST00000445933.6:c.1318_1321del (EIF2B4)	ENSP00000394397.2:p.Tyr440SerfsTer16
ENST00000451130.6:c.1381_1384del (EIF2B4)	ENSP00000394869.2:p.Tyr461SerfsTer16
ENST00000478311.1:n.314_317del (EIF2B4)
ENST00000493344.6:c.1384_1387del (EIF2B4)	ENSP00000429323.1:p.Tyr462SerfsTer16
ENST00000616081.4:c.1312_1315del (EIF2B4)	ENSP00000477710.1:p.Tyr438SerfsTer16
ENST00000622434.4:c.*587_*590del (EIF2B4)	ENSP00000479991.1:n.*587_*590del
NM_001034116.1:c.1321_1324del (EIF2B4)	NP_001029288.1:p.Tyr441SerfsTer16
NM_015636.3:c.1318_1321del (EIF2B4)	NP_056451.3:p.Tyr440SerfsTer16
NM_172195.3:c.1381_1384del (EIF2B4)	NP_751945.2:p.Tyr461SerfsTer16
XM_005264632.1:c.1276_1279del (EIF2B4)	XP_005264689.1:p.Tyr426SerfsTer16
XM_006712132.1:c.1273_1276del (EIF2B4)	XP_006712195.1:p.Tyr425SerfsTer16
XM_011533147.1:c.703_706del (EIF2B4)	XP_011531449.1:p.Tyr235SerfsTer16
XR_939868.1:n.1772-2655_1772-2652del (GTF3C2-AS2)
NM_001318965.1:c.1384_1387del (EIF2B4)	NP_001305894.1:p.Tyr462SerfsTer16
NM_001318966.1:c.1276_1279del (EIF2B4)	NP_001305895.1:p.Tyr426SerfsTer16
NM_001318967.1:c.1228_1231del (EIF2B4)	NP_001305896.1:p.Tyr410SerfsTer16
NM_001318968.1:c.736_739del (EIF2B4)	NP_001305897.1:p.Tyr246SerfsTer16
NM_001318969.1:c.703_706del (EIF2B4)	NP_001305898.1:p.Tyr235SerfsTer16
XM_011533147.2:c.703_706del (EIF2B4)	XP_011531449.1:p.Tyr235SerfsTer16
NM_001034116.2:c.1321_1324del (EIF2B4) MANE Select	NP_001029288.1:p.Tyr441SerfsTer16
NM_001318965.2:c.1384_1387del (EIF2B4)	NP_001305894.1:p.Tyr462SerfsTer16
NM_001318966.2:c.1276_1279del (EIF2B4)	NP_001305895.1:p.Tyr426SerfsTer16
NM_001318967.2:c.1228_1231del (EIF2B4)	NP_001305896.1:p.Tyr410SerfsTer16
NM_001318968.2:c.736_739del (EIF2B4)	NP_001305897.1:p.Tyr246SerfsTer16
NM_001318969.2:c.703_706del (EIF2B4)	NP_001305898.1:p.Tyr235SerfsTer16
NM_015636.4:c.1318_1321del (EIF2B4)	NP_056451.3:p.Tyr440SerfsTer16
NM_172195.4:c.1381_1384del (EIF2B4)	NP_751945.2:p.Tyr461SerfsTer16