Canonical Allele Identifier: CA346197041

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• gnomAD v4: 2-27364786-A-G
• MyVariant Identifiers: chr2:g.27587653A>G (hg19) ; chr2:g.27364786A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364786A>G , CM000664.2:g.27364786A>G	GRCh38
NC_000002.11:g.27587653A>G , CM000664.1:g.27587653A>G	GRCh37
NC_000002.10:g.27441157A>G	NCBI36
NG_009305.1:g.10672T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1304T>C (EIF2B4) MANE Select	ENSP00000233552.6:p.Leu435Pro
ENST00000347454.8:c.1304T>C (EIF2B4)	ENSP00000233552.5:p.Leu435Pro
ENST00000405940.6:c.*570T>C (EIF2B4)	ENSP00000384375.2:n.*570T>C
ENST00000445933.6:c.1301T>C (EIF2B4)	ENSP00000394397.2:p.Leu434Pro
ENST00000451130.6:c.1364T>C (EIF2B4)	ENSP00000394869.2:p.Leu455Pro
ENST00000478311.1:n.297T>C (EIF2B4)
ENST00000493344.6:c.1367T>C (EIF2B4)	ENSP00000429323.1:p.Leu456Pro
ENST00000616081.4:c.1295T>C (EIF2B4)	ENSP00000477710.1:p.Leu432Pro
ENST00000622434.4:c.*570T>C (EIF2B4)	ENSP00000479991.1:n.*570T>C
NM_001034116.1:c.1304T>C (EIF2B4)	NP_001029288.1:p.Leu435Pro
NM_015636.3:c.1301T>C (EIF2B4)	NP_056451.3:p.Leu434Pro
NM_172195.3:c.1364T>C (EIF2B4)	NP_751945.2:p.Leu455Pro
XM_005264632.1:c.1259T>C (EIF2B4)	XP_005264689.1:p.Leu420Pro
XM_006712132.1:c.1256T>C (EIF2B4)	XP_006712195.1:p.Leu419Pro
XM_011533147.1:c.686T>C (EIF2B4)	XP_011531449.1:p.Leu229Pro
XR_939868.1:n.1772-2638A>G (GTF3C2-AS2)
NM_001318965.1:c.1367T>C (EIF2B4)	NP_001305894.1:p.Leu456Pro
NM_001318966.1:c.1259T>C (EIF2B4)	NP_001305895.1:p.Leu420Pro
NM_001318967.1:c.1211T>C (EIF2B4)	NP_001305896.1:p.Leu404Pro
NM_001318968.1:c.719T>C (EIF2B4)	NP_001305897.1:p.Leu240Pro
NM_001318969.1:c.686T>C (EIF2B4)	NP_001305898.1:p.Leu229Pro
XM_011533147.2:c.686T>C (EIF2B4)	XP_011531449.1:p.Leu229Pro
NM_001034116.2:c.1304T>C (EIF2B4) MANE Select	NP_001029288.1:p.Leu435Pro
NM_001318965.2:c.1367T>C (EIF2B4)	NP_001305894.1:p.Leu456Pro
NM_001318966.2:c.1259T>C (EIF2B4)	NP_001305895.1:p.Leu420Pro
NM_001318967.2:c.1211T>C (EIF2B4)	NP_001305896.1:p.Leu404Pro
NM_001318968.2:c.719T>C (EIF2B4)	NP_001305897.1:p.Leu240Pro
NM_001318969.2:c.686T>C (EIF2B4)	NP_001305898.1:p.Leu229Pro
NM_015636.4:c.1301T>C (EIF2B4)	NP_056451.3:p.Leu434Pro
NM_172195.4:c.1364T>C (EIF2B4)	NP_751945.2:p.Leu455Pro