Canonical Allele Identifier: CA1576621

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• ClinVar Variation Id: 2972417
• ClinVar RCV Id: RCV003835543
• dbSNP Id: rs776776464
• ExAC: 2:27587774 CAGG / C
• gnomAD v2: 2-27587774-CAGG-C
• gnomAD v3: 2-27364907-CAGG-C
• gnomAD v4: 2-27364907-CAGG-C
• MyVariant Identifiers: chr2:g.27587775_27587777del (hg19) ; chr2:g.27364908_27364910del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364910_27364912del , CM000664.2:g.27364910_27364912del	GRCh38
NC_000002.11:g.27587777_27587779del , CM000664.1:g.27587777_27587779del	GRCh37
NC_000002.10:g.27441281_27441283del	NCBI36
NG_009305.1:g.10548_10550del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1192-12_1192-10del (EIF2B4) MANE Select	ENSP00000233552.6:n.1192-12_1192-10del
ENST00000347454.8:c.1192-12_1192-10del (EIF2B4)	ENSP00000233552.5:n.1192-12_1192-10del
ENST00000405940.6:c.*458-12_*458-10del (EIF2B4)	ENSP00000384375.2:n.*458-12_*458-10del
ENST00000445933.6:c.1189-12_1189-10del (EIF2B4)	ENSP00000394397.2:n.1189-12_1189-10del
ENST00000451130.6:c.1252-12_1252-10del (EIF2B4)	ENSP00000394869.2:n.1252-12_1252-10del
ENST00000478311.1:n.173_175del (EIF2B4)
ENST00000493344.6:c.1255-12_1255-10del (EIF2B4)	ENSP00000429323.1:n.1255-12_1255-10del
ENST00000616081.4:c.1183-12_1183-10del (EIF2B4)	ENSP00000477710.1:n.1183-12_1183-10del
ENST00000622434.4:c.*458-12_*458-10del (EIF2B4)	ENSP00000479991.1:n.*458-12_*458-10del
NM_001034116.1:c.1192-12_1192-10del (EIF2B4)	NP_001029288.1:n.1192-12_1192-10del
NM_015636.3:c.1189-12_1189-10del (EIF2B4)	NP_056451.3:n.1189-12_1189-10del
NM_172195.3:c.1252-12_1252-10del (EIF2B4)	NP_751945.2:n.1252-12_1252-10del
XM_005264632.1:c.1147-12_1147-10del (EIF2B4)	XP_005264689.1:n.1147-12_1147-10del
XM_006712132.1:c.1144-12_1144-10del (EIF2B4)	XP_006712195.1:n.1144-12_1144-10del
XM_011533147.1:c.574-12_574-10del (EIF2B4)	XP_011531449.1:n.574-12_574-10del
XR_939868.1:n.1772-2514_1772-2512del (GTF3C2-AS2)
NM_001318965.1:c.1255-12_1255-10del (EIF2B4)	NP_001305894.1:n.1255-12_1255-10del
NM_001318966.1:c.1147-12_1147-10del (EIF2B4)	NP_001305895.1:n.1147-12_1147-10del
NM_001318967.1:c.1099-12_1099-10del (EIF2B4)	NP_001305896.1:n.1099-12_1099-10del
NM_001318968.1:c.607-12_607-10del (EIF2B4)	NP_001305897.1:n.607-12_607-10del
NM_001318969.1:c.574-12_574-10del (EIF2B4)	NP_001305898.1:n.574-12_574-10del
XM_011533147.2:c.574-12_574-10del (EIF2B4)	XP_011531449.1:n.574-12_574-10del
NM_001034116.2:c.1192-12_1192-10del (EIF2B4) MANE Select	NP_001029288.1:n.1192-12_1192-10del
NM_001318965.2:c.1255-12_1255-10del (EIF2B4)	NP_001305894.1:n.1255-12_1255-10del
NM_001318966.2:c.1147-12_1147-10del (EIF2B4)	NP_001305895.1:n.1147-12_1147-10del
NM_001318967.2:c.1099-12_1099-10del (EIF2B4)	NP_001305896.1:n.1099-12_1099-10del
NM_001318968.2:c.607-12_607-10del (EIF2B4)	NP_001305897.1:n.607-12_607-10del
NM_001318969.2:c.574-12_574-10del (EIF2B4)	NP_001305898.1:n.574-12_574-10del
NM_015636.4:c.1189-12_1189-10del (EIF2B4)	NP_056451.3:n.1189-12_1189-10del
NM_172195.4:c.1252-12_1252-10del (EIF2B4)	NP_751945.2:n.1252-12_1252-10del