Canonical Allele Identifier: CA346197341

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• MyVariant Identifiers: chr2:g.27587748C>A (hg19) ; chr2:g.27364881C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364881C>A , CM000664.2:g.27364881C>A	GRCh38
NC_000002.11:g.27587748C>A , CM000664.1:g.27587748C>A	GRCh37
NC_000002.10:g.27441252C>A	NCBI36
NG_009305.1:g.10577G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1209G>T (EIF2B4) MANE Select	ENSP00000233552.6:p.Leu403Phe
ENST00000347454.8:c.1209G>T (EIF2B4)	ENSP00000233552.5:p.Leu403Phe
ENST00000405940.6:c.*475G>T (EIF2B4)	ENSP00000384375.2:n.*475G>T
ENST00000445933.6:c.1206G>T (EIF2B4)	ENSP00000394397.2:p.Leu402Phe
ENST00000451130.6:c.1269G>T (EIF2B4)	ENSP00000394869.2:p.Leu423Phe
ENST00000478311.1:n.202G>T (EIF2B4)
ENST00000493344.6:c.1272G>T (EIF2B4)	ENSP00000429323.1:p.Leu424Phe
ENST00000616081.4:c.1200G>T (EIF2B4)	ENSP00000477710.1:p.Leu400Phe
ENST00000622434.4:c.*475G>T (EIF2B4)	ENSP00000479991.1:n.*475G>T
NM_001034116.1:c.1209G>T (EIF2B4)	NP_001029288.1:p.Leu403Phe
NM_015636.3:c.1206G>T (EIF2B4)	NP_056451.3:p.Leu402Phe
NM_172195.3:c.1269G>T (EIF2B4)	NP_751945.2:p.Leu423Phe
XM_005264632.1:c.1164G>T (EIF2B4)	XP_005264689.1:p.Leu388Phe
XM_006712132.1:c.1161G>T (EIF2B4)	XP_006712195.1:p.Leu387Phe
XM_011533147.1:c.591G>T (EIF2B4)	XP_011531449.1:p.Leu197Phe
XR_939868.1:n.1772-2543C>A (GTF3C2-AS2)
NM_001318965.1:c.1272G>T (EIF2B4)	NP_001305894.1:p.Leu424Phe
NM_001318966.1:c.1164G>T (EIF2B4)	NP_001305895.1:p.Leu388Phe
NM_001318967.1:c.1116G>T (EIF2B4)	NP_001305896.1:p.Leu372Phe
NM_001318968.1:c.624G>T (EIF2B4)	NP_001305897.1:p.Leu208Phe
NM_001318969.1:c.591G>T (EIF2B4)	NP_001305898.1:p.Leu197Phe
XM_011533147.2:c.591G>T (EIF2B4)	XP_011531449.1:p.Leu197Phe
NM_001034116.2:c.1209G>T (EIF2B4) MANE Select	NP_001029288.1:p.Leu403Phe
NM_001318965.2:c.1272G>T (EIF2B4)	NP_001305894.1:p.Leu424Phe
NM_001318966.2:c.1164G>T (EIF2B4)	NP_001305895.1:p.Leu388Phe
NM_001318967.2:c.1116G>T (EIF2B4)	NP_001305896.1:p.Leu372Phe
NM_001318968.2:c.624G>T (EIF2B4)	NP_001305897.1:p.Leu208Phe
NM_001318969.2:c.591G>T (EIF2B4)	NP_001305898.1:p.Leu197Phe
NM_015636.4:c.1206G>T (EIF2B4)	NP_056451.3:p.Leu402Phe
NM_172195.4:c.1269G>T (EIF2B4)	NP_751945.2:p.Leu423Phe