Canonical Allele Identifier: CA1576602

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• dbSNP Id: rs759669141
• ExAC: 2:27587621 G / A
• gnomAD v2: 2-27587621-G-A
• gnomAD v4: 2-27364754-G-A
• MyVariant Identifiers: chr2:g.27587621G>A (hg19) ; chr2:g.27364754G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364754G>A , CM000664.2:g.27364754G>A	GRCh38
NC_000002.11:g.27587621G>A , CM000664.1:g.27587621G>A	GRCh37
NC_000002.10:g.27441125G>A	NCBI36
NG_009305.1:g.10704C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1336C>T (EIF2B4) MANE Select	ENSP00000233552.6:p.Arg446Cys
ENST00000347454.8:c.1336C>T (EIF2B4)	ENSP00000233552.5:p.Arg446Cys
ENST00000405940.6:c.*602C>T (EIF2B4)	ENSP00000384375.2:n.*602C>T
ENST00000445933.6:c.1333C>T (EIF2B4)	ENSP00000394397.2:p.Arg445Cys
ENST00000451130.6:c.1396C>T (EIF2B4)	ENSP00000394869.2:p.Arg466Cys
ENST00000478311.1:n.329C>T (EIF2B4)
ENST00000493344.6:c.1399C>T (EIF2B4)	ENSP00000429323.1:p.Arg467Cys
ENST00000616081.4:c.1327C>T (EIF2B4)	ENSP00000477710.1:p.Arg443Cys
ENST00000622434.4:c.*602C>T (EIF2B4)	ENSP00000479991.1:n.*602C>T
NM_001034116.1:c.1336C>T (EIF2B4)	NP_001029288.1:p.Arg446Cys
NM_015636.3:c.1333C>T (EIF2B4)	NP_056451.3:p.Arg445Cys
NM_172195.3:c.1396C>T (EIF2B4)	NP_751945.2:p.Arg466Cys
XM_005264632.1:c.1291C>T (EIF2B4)	XP_005264689.1:p.Arg431Cys
XM_006712132.1:c.1288C>T (EIF2B4)	XP_006712195.1:p.Arg430Cys
XM_011533147.1:c.718C>T (EIF2B4)	XP_011531449.1:p.Arg240Cys
XR_939868.1:n.1772-2670G>A (GTF3C2-AS2)
NM_001318965.1:c.1399C>T (EIF2B4)	NP_001305894.1:p.Arg467Cys
NM_001318966.1:c.1291C>T (EIF2B4)	NP_001305895.1:p.Arg431Cys
NM_001318967.1:c.1243C>T (EIF2B4)	NP_001305896.1:p.Arg415Cys
NM_001318968.1:c.751C>T (EIF2B4)	NP_001305897.1:p.Arg251Cys
NM_001318969.1:c.718C>T (EIF2B4)	NP_001305898.1:p.Arg240Cys
XM_011533147.2:c.718C>T (EIF2B4)	XP_011531449.1:p.Arg240Cys
NM_001034116.2:c.1336C>T (EIF2B4) MANE Select	NP_001029288.1:p.Arg446Cys
NM_001318965.2:c.1399C>T (EIF2B4)	NP_001305894.1:p.Arg467Cys
NM_001318966.2:c.1291C>T (EIF2B4)	NP_001305895.1:p.Arg431Cys
NM_001318967.2:c.1243C>T (EIF2B4)	NP_001305896.1:p.Arg415Cys
NM_001318968.2:c.751C>T (EIF2B4)	NP_001305897.1:p.Arg251Cys
NM_001318969.2:c.718C>T (EIF2B4)	NP_001305898.1:p.Arg240Cys
NM_015636.4:c.1333C>T (EIF2B4)	NP_056451.3:p.Arg445Cys
NM_172195.4:c.1396C>T (EIF2B4)	NP_751945.2:p.Arg466Cys