Canonical Allele Identifier: CA1576679

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• ClinVar Variation Id: 1639948
• ClinVar RCV Id: RCV002150822
• dbSNP Id: rs766010614
• ExAC: 2:27589822 AG / A
• gnomAD v2: 2-27589822-AG-A
• gnomAD v3: 2-27366955-AG-A
• gnomAD v4: 2-27366955-AG-A
• MyVariant Identifiers: chr2:g.27589823del (hg19) ; chr2:g.27366956del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27366957del , CM000664.2:g.27366957del	GRCh38
NC_000002.11:g.27589824del , CM000664.1:g.27589824del	GRCh37
NC_000002.10:g.27443328del	NCBI36
NG_009305.1:g.8502del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1014-20del (EIF2B4) MANE Select	ENSP00000233552.6:n.1014-20del
ENST00000347454.8:c.1014-20del (EIF2B4)	ENSP00000233552.5:n.1014-20del
ENST00000405940.6:c.*280-20del (EIF2B4)	ENSP00000384375.2:n.*280-20del
ENST00000417567.1:c.588-20del (EIF2B4)
ENST00000445933.6:c.1011-20del (EIF2B4)	ENSP00000394397.2:n.1011-20del
ENST00000451130.6:c.1074-20del (EIF2B4)	ENSP00000394869.2:n.1074-20del
ENST00000475582.5:n.2895del (EIF2B4)
ENST00000493344.6:c.1077-20del (EIF2B4)	ENSP00000429323.1:n.1077-20del
ENST00000616081.4:c.1005-20del (EIF2B4)	ENSP00000477710.1:n.1005-20del
ENST00000622434.4:c.*280-20del (EIF2B4)	ENSP00000479991.1:n.*280-20del
NM_001034116.1:c.1014-20del (EIF2B4)	NP_001029288.1:n.1014-20del
NM_015636.3:c.1011-20del (EIF2B4)	NP_056451.3:n.1011-20del
NM_172195.3:c.1074-20del (EIF2B4)	NP_751945.2:n.1074-20del
XM_005264632.1:c.969-20del (EIF2B4)	XP_005264689.1:n.969-20del
XM_006712132.1:c.966-20del (EIF2B4)	XP_006712195.1:n.966-20del
XM_011533147.1:c.396-20del (EIF2B4)	XP_011531449.1:n.396-20del
XR_939868.1:n.1772-467del (GTF3C2-AS2)
NM_001318965.1:c.1077-20del (EIF2B4)	NP_001305894.1:n.1077-20del
NM_001318966.1:c.969-20del (EIF2B4)	NP_001305895.1:n.969-20del
NM_001318967.1:c.921-20del (EIF2B4)	NP_001305896.1:n.921-20del
NM_001318968.1:c.429-20del (EIF2B4)	NP_001305897.1:n.429-20del
NM_001318969.1:c.396-20del (EIF2B4)	NP_001305898.1:n.396-20del
XM_011533147.2:c.396-20del (EIF2B4)	XP_011531449.1:n.396-20del
NM_001034116.2:c.1014-20del (EIF2B4) MANE Select	NP_001029288.1:n.1014-20del
NM_001318965.2:c.1077-20del (EIF2B4)	NP_001305894.1:n.1077-20del
NM_001318966.2:c.969-20del (EIF2B4)	NP_001305895.1:n.969-20del
NM_001318967.2:c.921-20del (EIF2B4)	NP_001305896.1:n.921-20del
NM_001318968.2:c.429-20del (EIF2B4)	NP_001305897.1:n.429-20del
NM_001318969.2:c.396-20del (EIF2B4)	NP_001305898.1:n.396-20del
NM_015636.4:c.1011-20del (EIF2B4)	NP_056451.3:n.1011-20del
NM_172195.4:c.1074-20del (EIF2B4)	NP_751945.2:n.1074-20del