Canonical Allele Identifier: CA346197462

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• MyVariant Identifiers: chr2:g.27589631G>A (hg19) ; chr2:g.27366764G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27366764G>A , CM000664.2:g.27366764G>A	GRCh38
NC_000002.11:g.27589631G>A , CM000664.1:g.27589631G>A	GRCh37
NC_000002.10:g.27443135G>A	NCBI36
NG_009305.1:g.8694C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000347454.9:c.1186C>T (EIF2B4) MANE Select	ENSP00000233552.6:p.Pro396Ser
ENST00000347454.8:c.1186C>T (EIF2B4)	ENSP00000233552.5:p.Pro396Ser
ENST00000405940.6:c.*452C>T (EIF2B4)	ENSP00000384375.2:n.*452C>T
ENST00000417567.1:c.760C>T (EIF2B4)
ENST00000445933.6:c.1183C>T (EIF2B4)	ENSP00000394397.2:p.Pro395Ser
ENST00000451130.6:c.1246C>T (EIF2B4)	ENSP00000394869.2:p.Pro416Ser
ENST00000475582.5:n.3087C>T (EIF2B4)
ENST00000493344.6:c.1249C>T (EIF2B4)	ENSP00000429323.1:p.Pro417Ser
ENST00000616081.4:c.1177C>T (EIF2B4)	ENSP00000477710.1:p.Pro393Ser
ENST00000622434.4:c.*452C>T (EIF2B4)	ENSP00000479991.1:n.*452C>T
NM_001034116.1:c.1186C>T (EIF2B4)	NP_001029288.1:p.Pro396Ser
NM_015636.3:c.1183C>T (EIF2B4)	NP_056451.3:p.Pro395Ser
NM_172195.3:c.1246C>T (EIF2B4)	NP_751945.2:p.Pro416Ser
XM_005264632.1:c.1141C>T (EIF2B4)	XP_005264689.1:p.Pro381Ser
XM_006712132.1:c.1138C>T (EIF2B4)	XP_006712195.1:p.Pro380Ser
XM_011533147.1:c.568C>T (EIF2B4)	XP_011531449.1:p.Pro190Ser
XR_939868.1:n.1772-660G>A (GTF3C2-AS2)
NM_001318965.1:c.1249C>T (EIF2B4)	NP_001305894.1:p.Pro417Ser
NM_001318966.1:c.1141C>T (EIF2B4)	NP_001305895.1:p.Pro381Ser
NM_001318967.1:c.1093C>T (EIF2B4)	NP_001305896.1:p.Pro365Ser
NM_001318968.1:c.601C>T (EIF2B4)	NP_001305897.1:p.Pro201Ser
NM_001318969.1:c.568C>T (EIF2B4)	NP_001305898.1:p.Pro190Ser
XM_011533147.2:c.568C>T (EIF2B4)	XP_011531449.1:p.Pro190Ser
NM_001034116.2:c.1186C>T (EIF2B4) MANE Select	NP_001029288.1:p.Pro396Ser
NM_001318965.2:c.1249C>T (EIF2B4)	NP_001305894.1:p.Pro417Ser
NM_001318966.2:c.1141C>T (EIF2B4)	NP_001305895.1:p.Pro381Ser
NM_001318967.2:c.1093C>T (EIF2B4)	NP_001305896.1:p.Pro365Ser
NM_001318968.2:c.601C>T (EIF2B4)	NP_001305897.1:p.Pro201Ser
NM_001318969.2:c.568C>T (EIF2B4)	NP_001305898.1:p.Pro190Ser
NM_015636.4:c.1183C>T (EIF2B4)	NP_056451.3:p.Pro395Ser
NM_172195.4:c.1246C>T (EIF2B4)	NP_751945.2:p.Pro416Ser