Canonical Allele Identifier: CA1576653

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• dbSNP Id: rs760119905
• ExAC: 2:27589706 G / A
• gnomAD v2: 2-27589706-G-A
• gnomAD v4: 2-27366839-G-A
• MyVariant Identifiers: chr2:g.27589706G>A (hg19) ; chr2:g.27366839G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27366839G>A , CM000664.2:g.27366839G>A	GRCh38
NC_000002.11:g.27589706G>A , CM000664.1:g.27589706G>A	GRCh37
NC_000002.10:g.27443210G>A	NCBI36
NG_009305.1:g.8619C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000347454.9:c.1111C>T (EIF2B4) MANE Select	ENSP00000233552.6:p.His371Tyr
ENST00000347454.8:c.1111C>T (EIF2B4)	ENSP00000233552.5:p.His371Tyr
ENST00000405940.6:c.*377C>T (EIF2B4)	ENSP00000384375.2:n.*377C>T
ENST00000417567.1:c.685C>T (EIF2B4)
ENST00000445933.6:c.1108C>T (EIF2B4)	ENSP00000394397.2:p.His370Tyr
ENST00000451130.6:c.1171C>T (EIF2B4)	ENSP00000394869.2:p.His391Tyr
ENST00000475582.5:n.3012C>T (EIF2B4)
ENST00000493344.6:c.1174C>T (EIF2B4)	ENSP00000429323.1:p.His392Tyr
ENST00000616081.4:c.1102C>T (EIF2B4)	ENSP00000477710.1:p.His368Tyr
ENST00000622434.4:c.*377C>T (EIF2B4)	ENSP00000479991.1:n.*377C>T
NM_001034116.1:c.1111C>T (EIF2B4)	NP_001029288.1:p.His371Tyr
NM_015636.3:c.1108C>T (EIF2B4)	NP_056451.3:p.His370Tyr
NM_172195.3:c.1171C>T (EIF2B4)	NP_751945.2:p.His391Tyr
XM_005264632.1:c.1066C>T (EIF2B4)	XP_005264689.1:p.His356Tyr
XM_006712132.1:c.1063C>T (EIF2B4)	XP_006712195.1:p.His355Tyr
XM_011533147.1:c.493C>T (EIF2B4)	XP_011531449.1:p.His165Tyr
XR_939868.1:n.1772-585G>A (GTF3C2-AS2)
NM_001318965.1:c.1174C>T (EIF2B4)	NP_001305894.1:p.His392Tyr
NM_001318966.1:c.1066C>T (EIF2B4)	NP_001305895.1:p.His356Tyr
NM_001318967.1:c.1018C>T (EIF2B4)	NP_001305896.1:p.His340Tyr
NM_001318968.1:c.526C>T (EIF2B4)	NP_001305897.1:p.His176Tyr
NM_001318969.1:c.493C>T (EIF2B4)	NP_001305898.1:p.His165Tyr
XM_011533147.2:c.493C>T (EIF2B4)	XP_011531449.1:p.His165Tyr
NM_001034116.2:c.1111C>T (EIF2B4) MANE Select	NP_001029288.1:p.His371Tyr
NM_001318965.2:c.1174C>T (EIF2B4)	NP_001305894.1:p.His392Tyr
NM_001318966.2:c.1066C>T (EIF2B4)	NP_001305895.1:p.His356Tyr
NM_001318967.2:c.1018C>T (EIF2B4)	NP_001305896.1:p.His340Tyr
NM_001318968.2:c.526C>T (EIF2B4)	NP_001305897.1:p.His176Tyr
NM_001318969.2:c.493C>T (EIF2B4)	NP_001305898.1:p.His165Tyr
NM_015636.4:c.1108C>T (EIF2B4)	NP_056451.3:p.His370Tyr
NM_172195.4:c.1171C>T (EIF2B4)	NP_751945.2:p.His391Tyr