Canonical Allele Identifier: CA346197110

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• MyVariant Identifiers: chr2:g.27587674C>A (hg19) ; chr2:g.27364807C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364807C>A , CM000664.2:g.27364807C>A	GRCh38
NC_000002.11:g.27587674C>A , CM000664.1:g.27587674C>A	GRCh37
NC_000002.10:g.27441178C>A	NCBI36
NG_009305.1:g.10651G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1283G>T (EIF2B4) MANE Select	ENSP00000233552.6:p.Arg428Leu
ENST00000347454.8:c.1283G>T (EIF2B4)	ENSP00000233552.5:p.Arg428Leu
ENST00000405940.6:c.*549G>T (EIF2B4)	ENSP00000384375.2:n.*549G>T
ENST00000445933.6:c.1280G>T (EIF2B4)	ENSP00000394397.2:p.Arg427Leu
ENST00000451130.6:c.1343G>T (EIF2B4)	ENSP00000394869.2:p.Arg448Leu
ENST00000478311.1:n.276G>T (EIF2B4)
ENST00000493344.6:c.1346G>T (EIF2B4)	ENSP00000429323.1:p.Arg449Leu
ENST00000616081.4:c.1274G>T (EIF2B4)	ENSP00000477710.1:p.Arg425Leu
ENST00000622434.4:c.*549G>T (EIF2B4)	ENSP00000479991.1:n.*549G>T
NM_001034116.1:c.1283G>T (EIF2B4)	NP_001029288.1:p.Arg428Leu
NM_015636.3:c.1280G>T (EIF2B4)	NP_056451.3:p.Arg427Leu
NM_172195.3:c.1343G>T (EIF2B4)	NP_751945.2:p.Arg448Leu
XM_005264632.1:c.1238G>T (EIF2B4)	XP_005264689.1:p.Arg413Leu
XM_006712132.1:c.1235G>T (EIF2B4)	XP_006712195.1:p.Arg412Leu
XM_011533147.1:c.665G>T (EIF2B4)	XP_011531449.1:p.Arg222Leu
XR_939868.1:n.1772-2617C>A (GTF3C2-AS2)
NM_001318965.1:c.1346G>T (EIF2B4)	NP_001305894.1:p.Arg449Leu
NM_001318966.1:c.1238G>T (EIF2B4)	NP_001305895.1:p.Arg413Leu
NM_001318967.1:c.1190G>T (EIF2B4)	NP_001305896.1:p.Arg397Leu
NM_001318968.1:c.698G>T (EIF2B4)	NP_001305897.1:p.Arg233Leu
NM_001318969.1:c.665G>T (EIF2B4)	NP_001305898.1:p.Arg222Leu
XM_011533147.2:c.665G>T (EIF2B4)	XP_011531449.1:p.Arg222Leu
NM_001034116.2:c.1283G>T (EIF2B4) MANE Select	NP_001029288.1:p.Arg428Leu
NM_001318965.2:c.1346G>T (EIF2B4)	NP_001305894.1:p.Arg449Leu
NM_001318966.2:c.1238G>T (EIF2B4)	NP_001305895.1:p.Arg413Leu
NM_001318967.2:c.1190G>T (EIF2B4)	NP_001305896.1:p.Arg397Leu
NM_001318968.2:c.698G>T (EIF2B4)	NP_001305897.1:p.Arg233Leu
NM_001318969.2:c.665G>T (EIF2B4)	NP_001305898.1:p.Arg222Leu
NM_015636.4:c.1280G>T (EIF2B4)	NP_056451.3:p.Arg427Leu
NM_172195.4:c.1343G>T (EIF2B4)	NP_751945.2:p.Arg448Leu