Canonical Allele Identifier: CA425410306

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• dbSNP Id: rs1321426570
• gnomAD v2: 2-27587697-T-G
• gnomAD v4: 2-27364830-T-G
• MyVariant Identifiers: chr2:g.27587697T>G (hg19) ; chr2:g.27364830T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364830T>G , CM000664.2:g.27364830T>G	GRCh38
NC_000002.11:g.27587697T>G , CM000664.1:g.27587697T>G	GRCh37
NC_000002.10:g.27441201T>G	NCBI36
NG_009305.1:g.10628A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1260A>C (EIF2B4) MANE Select	ENSP00000233552.6:p.Thr420=
ENST00000347454.8:c.1260A>C (EIF2B4)	ENSP00000233552.5:p.Thr420=
ENST00000405940.6:c.*526A>C (EIF2B4)	ENSP00000384375.2:n.*526A>C
ENST00000445933.6:c.1257A>C (EIF2B4)	ENSP00000394397.2:p.Thr419=
ENST00000451130.6:c.1320A>C (EIF2B4)	ENSP00000394869.2:p.Thr440=
ENST00000478311.1:n.253A>C (EIF2B4)
ENST00000493344.6:c.1323A>C (EIF2B4)	ENSP00000429323.1:p.Thr441=
ENST00000616081.4:c.1251A>C (EIF2B4)	ENSP00000477710.1:p.Thr417=
ENST00000622434.4:c.*526A>C (EIF2B4)	ENSP00000479991.1:n.*526A>C
NM_001034116.1:c.1260A>C (EIF2B4)	NP_001029288.1:p.Thr420=
NM_015636.3:c.1257A>C (EIF2B4)	NP_056451.3:p.Thr419=
NM_172195.3:c.1320A>C (EIF2B4)	NP_751945.2:p.Thr440=
XM_005264632.1:c.1215A>C (EIF2B4)	XP_005264689.1:p.Thr405=
XM_006712132.1:c.1212A>C (EIF2B4)	XP_006712195.1:p.Thr404=
XM_011533147.1:c.642A>C (EIF2B4)	XP_011531449.1:p.Thr214=
XR_939868.1:n.1772-2594T>G (GTF3C2-AS2)
NM_001318965.1:c.1323A>C (EIF2B4)	NP_001305894.1:p.Thr441=
NM_001318966.1:c.1215A>C (EIF2B4)	NP_001305895.1:p.Thr405=
NM_001318967.1:c.1167A>C (EIF2B4)	NP_001305896.1:p.Thr389=
NM_001318968.1:c.675A>C (EIF2B4)	NP_001305897.1:p.Thr225=
NM_001318969.1:c.642A>C (EIF2B4)	NP_001305898.1:p.Thr214=
XM_011533147.2:c.642A>C (EIF2B4)	XP_011531449.1:p.Thr214=
NM_001034116.2:c.1260A>C (EIF2B4) MANE Select	NP_001029288.1:p.Thr420=
NM_001318965.2:c.1323A>C (EIF2B4)	NP_001305894.1:p.Thr441=
NM_001318966.2:c.1215A>C (EIF2B4)	NP_001305895.1:p.Thr405=
NM_001318967.2:c.1167A>C (EIF2B4)	NP_001305896.1:p.Thr389=
NM_001318968.2:c.675A>C (EIF2B4)	NP_001305897.1:p.Thr225=
NM_001318969.2:c.642A>C (EIF2B4)	NP_001305898.1:p.Thr214=
NM_015636.4:c.1257A>C (EIF2B4)	NP_056451.3:p.Thr419=
NM_172195.4:c.1320A>C (EIF2B4)	NP_751945.2:p.Thr440=