Canonical Allele Identifier: CA346196845

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• MyVariant Identifiers: chr2:g.27587592A>C (hg19) ; chr2:g.27364725A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364725A>C , CM000664.2:g.27364725A>C	GRCh38
NC_000002.11:g.27587592A>C , CM000664.1:g.27587592A>C	GRCh37
NC_000002.10:g.27441096A>C	NCBI36
NG_009305.1:g.10733T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1365T>G (EIF2B4) MANE Select	ENSP00000233552.6:p.Asn455Lys
ENST00000347454.8:c.1365T>G (EIF2B4)	ENSP00000233552.5:p.Asn455Lys
ENST00000405940.6:c.*631T>G (EIF2B4)	ENSP00000384375.2:n.*631T>G
ENST00000445933.6:c.1362T>G (EIF2B4)	ENSP00000394397.2:p.Asn454Lys
ENST00000451130.6:c.1425T>G (EIF2B4)	ENSP00000394869.2:p.Asn475Lys
ENST00000478311.1:n.358T>G (EIF2B4)
ENST00000493344.6:c.1428T>G (EIF2B4)	ENSP00000429323.1:p.Asn476Lys
ENST00000616081.4:c.1356T>G (EIF2B4)	ENSP00000477710.1:p.Asn452Lys
ENST00000622434.4:c.*631T>G (EIF2B4)	ENSP00000479991.1:n.*631T>G
NM_001034116.1:c.1365T>G (EIF2B4)	NP_001029288.1:p.Asn455Lys
NM_015636.3:c.1362T>G (EIF2B4)	NP_056451.3:p.Asn454Lys
NM_172195.3:c.1425T>G (EIF2B4)	NP_751945.2:p.Asn475Lys
XM_005264632.1:c.1320T>G (EIF2B4)	XP_005264689.1:p.Asn440Lys
XM_006712132.1:c.1317T>G (EIF2B4)	XP_006712195.1:p.Asn439Lys
XM_011533147.1:c.747T>G (EIF2B4)	XP_011531449.1:p.Asn249Lys
XR_939868.1:n.1772-2699A>C (GTF3C2-AS2)
NM_001318965.1:c.1428T>G (EIF2B4)	NP_001305894.1:p.Asn476Lys
NM_001318966.1:c.1320T>G (EIF2B4)	NP_001305895.1:p.Asn440Lys
NM_001318967.1:c.1272T>G (EIF2B4)	NP_001305896.1:p.Asn424Lys
NM_001318968.1:c.780T>G (EIF2B4)	NP_001305897.1:p.Asn260Lys
NM_001318969.1:c.747T>G (EIF2B4)	NP_001305898.1:p.Asn249Lys
XM_011533147.2:c.747T>G (EIF2B4)	XP_011531449.1:p.Asn249Lys
NM_001034116.2:c.1365T>G (EIF2B4) MANE Select	NP_001029288.1:p.Asn455Lys
NM_001318965.2:c.1428T>G (EIF2B4)	NP_001305894.1:p.Asn476Lys
NM_001318966.2:c.1320T>G (EIF2B4)	NP_001305895.1:p.Asn440Lys
NM_001318967.2:c.1272T>G (EIF2B4)	NP_001305896.1:p.Asn424Lys
NM_001318968.2:c.780T>G (EIF2B4)	NP_001305897.1:p.Asn260Lys
NM_001318969.2:c.747T>G (EIF2B4)	NP_001305898.1:p.Asn249Lys
NM_015636.4:c.1362T>G (EIF2B4)	NP_056451.3:p.Asn454Lys
NM_172195.4:c.1425T>G (EIF2B4)	NP_751945.2:p.Asn475Lys