Canonical Allele Identifier: CA346197274

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• MyVariant Identifiers: chr2:g.27587730C>A (hg19) ; chr2:g.27364863C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364863C>A , CM000664.2:g.27364863C>A	GRCh38
NC_000002.11:g.27587730C>A , CM000664.1:g.27587730C>A	GRCh37
NC_000002.10:g.27441234C>A	NCBI36
NG_009305.1:g.10595G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1227G>T (EIF2B4) MANE Select	ENSP00000233552.6:p.Leu409Phe
ENST00000347454.8:c.1227G>T (EIF2B4)	ENSP00000233552.5:p.Leu409Phe
ENST00000405940.6:c.*493G>T (EIF2B4)	ENSP00000384375.2:n.*493G>T
ENST00000445933.6:c.1224G>T (EIF2B4)	ENSP00000394397.2:p.Leu408Phe
ENST00000451130.6:c.1287G>T (EIF2B4)	ENSP00000394869.2:p.Leu429Phe
ENST00000478311.1:n.220G>T (EIF2B4)
ENST00000493344.6:c.1290G>T (EIF2B4)	ENSP00000429323.1:p.Leu430Phe
ENST00000616081.4:c.1218G>T (EIF2B4)	ENSP00000477710.1:p.Leu406Phe
ENST00000622434.4:c.*493G>T (EIF2B4)	ENSP00000479991.1:n.*493G>T
NM_001034116.1:c.1227G>T (EIF2B4)	NP_001029288.1:p.Leu409Phe
NM_015636.3:c.1224G>T (EIF2B4)	NP_056451.3:p.Leu408Phe
NM_172195.3:c.1287G>T (EIF2B4)	NP_751945.2:p.Leu429Phe
XM_005264632.1:c.1182G>T (EIF2B4)	XP_005264689.1:p.Leu394Phe
XM_006712132.1:c.1179G>T (EIF2B4)	XP_006712195.1:p.Leu393Phe
XM_011533147.1:c.609G>T (EIF2B4)	XP_011531449.1:p.Leu203Phe
XR_939868.1:n.1772-2561C>A (GTF3C2-AS2)
NM_001318965.1:c.1290G>T (EIF2B4)	NP_001305894.1:p.Leu430Phe
NM_001318966.1:c.1182G>T (EIF2B4)	NP_001305895.1:p.Leu394Phe
NM_001318967.1:c.1134G>T (EIF2B4)	NP_001305896.1:p.Leu378Phe
NM_001318968.1:c.642G>T (EIF2B4)	NP_001305897.1:p.Leu214Phe
NM_001318969.1:c.609G>T (EIF2B4)	NP_001305898.1:p.Leu203Phe
XM_011533147.2:c.609G>T (EIF2B4)	XP_011531449.1:p.Leu203Phe
NM_001034116.2:c.1227G>T (EIF2B4) MANE Select	NP_001029288.1:p.Leu409Phe
NM_001318965.2:c.1290G>T (EIF2B4)	NP_001305894.1:p.Leu430Phe
NM_001318966.2:c.1182G>T (EIF2B4)	NP_001305895.1:p.Leu394Phe
NM_001318967.2:c.1134G>T (EIF2B4)	NP_001305896.1:p.Leu378Phe
NM_001318968.2:c.642G>T (EIF2B4)	NP_001305897.1:p.Leu214Phe
NM_001318969.2:c.609G>T (EIF2B4)	NP_001305898.1:p.Leu203Phe
NM_015636.4:c.1224G>T (EIF2B4)	NP_056451.3:p.Leu408Phe
NM_172195.4:c.1287G>T (EIF2B4)	NP_751945.2:p.Leu429Phe