Canonical Allele Identifier: CA2658337493

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• gnomAD v4: 2-27366966-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27366966A>G , CM000664.2:g.27366966A>G	GRCh38
NC_000002.11:g.27589833A>G , CM000664.1:g.27589833A>G	GRCh37
NC_000002.10:g.27443337A>G	NCBI36
NG_009305.1:g.8492T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1014-30T>C (EIF2B4) MANE Select	ENSP00000233552.6:n.1014-30T>C
ENST00000347454.8:c.1014-30T>C (EIF2B4)	ENSP00000233552.5:n.1014-30T>C
ENST00000405940.6:c.*280-30T>C (EIF2B4)	ENSP00000384375.2:n.*280-30T>C
ENST00000417567.1:c.588-30T>C (EIF2B4)
ENST00000445933.6:c.1011-30T>C (EIF2B4)	ENSP00000394397.2:n.1011-30T>C
ENST00000451130.6:c.1074-30T>C (EIF2B4)	ENSP00000394869.2:n.1074-30T>C
ENST00000475582.5:n.2885T>C (EIF2B4)
ENST00000493344.6:c.1077-30T>C (EIF2B4)	ENSP00000429323.1:n.1077-30T>C
ENST00000616081.4:c.1005-30T>C (EIF2B4)	ENSP00000477710.1:n.1005-30T>C
ENST00000622434.4:c.*280-30T>C (EIF2B4)	ENSP00000479991.1:n.*280-30T>C
NM_001034116.1:c.1014-30T>C (EIF2B4)	NP_001029288.1:n.1014-30T>C
NM_015636.3:c.1011-30T>C (EIF2B4)	NP_056451.3:n.1011-30T>C
NM_172195.3:c.1074-30T>C (EIF2B4)	NP_751945.2:n.1074-30T>C
XM_005264632.1:c.969-30T>C (EIF2B4)	XP_005264689.1:n.969-30T>C
XM_006712132.1:c.966-30T>C (EIF2B4)	XP_006712195.1:n.966-30T>C
XM_011533147.1:c.396-30T>C (EIF2B4)	XP_011531449.1:n.396-30T>C
XR_939868.1:n.1772-458A>G (GTF3C2-AS2)
NM_001318965.1:c.1077-30T>C (EIF2B4)	NP_001305894.1:n.1077-30T>C
NM_001318966.1:c.969-30T>C (EIF2B4)	NP_001305895.1:n.969-30T>C
NM_001318967.1:c.921-30T>C (EIF2B4)	NP_001305896.1:n.921-30T>C
NM_001318968.1:c.429-30T>C (EIF2B4)	NP_001305897.1:n.429-30T>C
NM_001318969.1:c.396-30T>C (EIF2B4)	NP_001305898.1:n.396-30T>C
XM_011533147.2:c.396-30T>C (EIF2B4)	XP_011531449.1:n.396-30T>C
NM_001034116.2:c.1014-30T>C (EIF2B4) MANE Select	NP_001029288.1:n.1014-30T>C
NM_001318965.2:c.1077-30T>C (EIF2B4)	NP_001305894.1:n.1077-30T>C
NM_001318966.2:c.969-30T>C (EIF2B4)	NP_001305895.1:n.969-30T>C
NM_001318967.2:c.921-30T>C (EIF2B4)	NP_001305896.1:n.921-30T>C
NM_001318968.2:c.429-30T>C (EIF2B4)	NP_001305897.1:n.429-30T>C
NM_001318969.2:c.396-30T>C (EIF2B4)	NP_001305898.1:n.396-30T>C
NM_015636.4:c.1011-30T>C (EIF2B4)	NP_056451.3:n.1011-30T>C
NM_172195.4:c.1074-30T>C (EIF2B4)	NP_751945.2:n.1074-30T>C