Canonical Allele Identifier: CA2658336185

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• gnomAD v4: 2-27364910-G-GAGAAGAGGAAGAAAAAAATGTCATTGTTGTATCAATGC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364912_27364949dup , CM000664.2:g.27364912_27364949dup	GRCh38
NC_000002.11:g.27587779_27587816dup , CM000664.1:g.27587779_27587816dup	GRCh37
NC_000002.10:g.27441283_27441320dup	NCBI36
NG_009305.1:g.10510_10547dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1192-50_1192-13dup (EIF2B4) MANE Select	ENSP00000233552.6:n.1192-50_1192-13dup
ENST00000347454.8:c.1192-50_1192-13dup (EIF2B4)	ENSP00000233552.5:n.1192-50_1192-13dup
ENST00000405940.6:c.*458-50_*458-13dup (EIF2B4)	ENSP00000384375.2:n.*458-50_*458-13dup
ENST00000445933.6:c.1189-50_1189-13dup (EIF2B4)	ENSP00000394397.2:n.1189-50_1189-13dup
ENST00000451130.6:c.1252-50_1252-13dup (EIF2B4)	ENSP00000394869.2:n.1252-50_1252-13dup
ENST00000478311.1:n.135_172dup (EIF2B4)
ENST00000493344.6:c.1255-50_1255-13dup (EIF2B4)	ENSP00000429323.1:n.1255-50_1255-13dup
ENST00000616081.4:c.1183-50_1183-13dup (EIF2B4)	ENSP00000477710.1:n.1183-50_1183-13dup
ENST00000622434.4:c.*458-50_*458-13dup (EIF2B4)	ENSP00000479991.1:n.*458-50_*458-13dup
NM_001034116.1:c.1192-50_1192-13dup (EIF2B4)	NP_001029288.1:n.1192-50_1192-13dup
NM_015636.3:c.1189-50_1189-13dup (EIF2B4)	NP_056451.3:n.1189-50_1189-13dup
NM_172195.3:c.1252-50_1252-13dup (EIF2B4)	NP_751945.2:n.1252-50_1252-13dup
XM_005264632.1:c.1147-50_1147-13dup (EIF2B4)	XP_005264689.1:n.1147-50_1147-13dup
XM_006712132.1:c.1144-50_1144-13dup (EIF2B4)	XP_006712195.1:n.1144-50_1144-13dup
XM_011533147.1:c.574-50_574-13dup (EIF2B4)	XP_011531449.1:n.574-50_574-13dup
XR_939868.1:n.1772-2512_1772-2475dup (GTF3C2-AS2)
NM_001318965.1:c.1255-50_1255-13dup (EIF2B4)	NP_001305894.1:n.1255-50_1255-13dup
NM_001318966.1:c.1147-50_1147-13dup (EIF2B4)	NP_001305895.1:n.1147-50_1147-13dup
NM_001318967.1:c.1099-50_1099-13dup (EIF2B4)	NP_001305896.1:n.1099-50_1099-13dup
NM_001318968.1:c.607-50_607-13dup (EIF2B4)	NP_001305897.1:n.607-50_607-13dup
NM_001318969.1:c.574-50_574-13dup (EIF2B4)	NP_001305898.1:n.574-50_574-13dup
XM_011533147.2:c.574-50_574-13dup (EIF2B4)	XP_011531449.1:n.574-50_574-13dup
NM_001034116.2:c.1192-50_1192-13dup (EIF2B4) MANE Select	NP_001029288.1:n.1192-50_1192-13dup
NM_001318965.2:c.1255-50_1255-13dup (EIF2B4)	NP_001305894.1:n.1255-50_1255-13dup
NM_001318966.2:c.1147-50_1147-13dup (EIF2B4)	NP_001305895.1:n.1147-50_1147-13dup
NM_001318967.2:c.1099-50_1099-13dup (EIF2B4)	NP_001305896.1:n.1099-50_1099-13dup
NM_001318968.2:c.607-50_607-13dup (EIF2B4)	NP_001305897.1:n.607-50_607-13dup
NM_001318969.2:c.574-50_574-13dup (EIF2B4)	NP_001305898.1:n.574-50_574-13dup
NM_015636.4:c.1189-50_1189-13dup (EIF2B4)	NP_056451.3:n.1189-50_1189-13dup
NM_172195.4:c.1252-50_1252-13dup (EIF2B4)	NP_751945.2:n.1252-50_1252-13dup