Canonical Allele Identifier: CA346197408

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• gnomAD v4: 2-27364898-C-G
• MyVariant Identifiers: chr2:g.27587765C>G (hg19) ; chr2:g.27364898C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364898C>G , CM000664.2:g.27364898C>G	GRCh38
NC_000002.11:g.27587765C>G , CM000664.1:g.27587765C>G	GRCh37
NC_000002.10:g.27441269C>G	NCBI36
NG_009305.1:g.10560G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1192G>C (EIF2B4) MANE Select	ENSP00000233552.6:p.Val398Leu
ENST00000347454.8:c.1192G>C (EIF2B4)	ENSP00000233552.5:p.Val398Leu
ENST00000405940.6:c.*458G>C (EIF2B4)	ENSP00000384375.2:n.*458G>C
ENST00000445933.6:c.1189G>C (EIF2B4)	ENSP00000394397.2:p.Val397Leu
ENST00000451130.6:c.1252G>C (EIF2B4)	ENSP00000394869.2:p.Val418Leu
ENST00000478311.1:n.185G>C (EIF2B4)
ENST00000493344.6:c.1255G>C (EIF2B4)	ENSP00000429323.1:p.Val419Leu
ENST00000616081.4:c.1183G>C (EIF2B4)	ENSP00000477710.1:p.Val395Leu
ENST00000622434.4:c.*458G>C (EIF2B4)	ENSP00000479991.1:n.*458G>C
NM_001034116.1:c.1192G>C (EIF2B4)	NP_001029288.1:p.Val398Leu
NM_015636.3:c.1189G>C (EIF2B4)	NP_056451.3:p.Val397Leu
NM_172195.3:c.1252G>C (EIF2B4)	NP_751945.2:p.Val418Leu
XM_005264632.1:c.1147G>C (EIF2B4)	XP_005264689.1:p.Val383Leu
XM_006712132.1:c.1144G>C (EIF2B4)	XP_006712195.1:p.Val382Leu
XM_011533147.1:c.574G>C (EIF2B4)	XP_011531449.1:p.Val192Leu
XR_939868.1:n.1772-2526C>G (GTF3C2-AS2)
NM_001318965.1:c.1255G>C (EIF2B4)	NP_001305894.1:p.Val419Leu
NM_001318966.1:c.1147G>C (EIF2B4)	NP_001305895.1:p.Val383Leu
NM_001318967.1:c.1099G>C (EIF2B4)	NP_001305896.1:p.Val367Leu
NM_001318968.1:c.607G>C (EIF2B4)	NP_001305897.1:p.Val203Leu
NM_001318969.1:c.574G>C (EIF2B4)	NP_001305898.1:p.Val192Leu
XM_011533147.2:c.574G>C (EIF2B4)	XP_011531449.1:p.Val192Leu
NM_001034116.2:c.1192G>C (EIF2B4) MANE Select	NP_001029288.1:p.Val398Leu
NM_001318965.2:c.1255G>C (EIF2B4)	NP_001305894.1:p.Val419Leu
NM_001318966.2:c.1147G>C (EIF2B4)	NP_001305895.1:p.Val383Leu
NM_001318967.2:c.1099G>C (EIF2B4)	NP_001305896.1:p.Val367Leu
NM_001318968.2:c.607G>C (EIF2B4)	NP_001305897.1:p.Val203Leu
NM_001318969.2:c.574G>C (EIF2B4)	NP_001305898.1:p.Val192Leu
NM_015636.4:c.1189G>C (EIF2B4)	NP_056451.3:p.Val397Leu
NM_172195.4:c.1252G>C (EIF2B4)	NP_751945.2:p.Val418Leu