Canonical Allele Identifier: CA346200216

Gene: EIF2B4

Linked Data

• MyVariant Identifiers: chr2:g.27590928A>C (hg19) ; chr2:g.27368061A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27368061A>C , CM000664.2:g.27368061A>C	GRCh38
NC_000002.11:g.27590928A>C , CM000664.1:g.27590928A>C	GRCh37
NC_000002.10:g.27444432A>C	NCBI36
NG_009305.1:g.7397T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.669T>G MANE Select	ENSP00000233552.6:p.Asn223Lys
ENST00000347454.8:c.669T>G	ENSP00000233552.5:p.Asn223Lys
ENST00000405940.6:c.643T>G	ENSP00000384375.2:p.Cys215Gly
ENST00000417567.1:c.245T>G
ENST00000445933.6:c.666T>G	ENSP00000394397.2:p.Asn222Lys
ENST00000451130.6:c.729T>G	ENSP00000394869.2:p.Asn243Lys
ENST00000475582.5:n.1790T>G
ENST00000493344.6:c.732T>G	ENSP00000429323.1:p.Asn244Lys
ENST00000616081.4:c.660T>G	ENSP00000477710.1:p.Asn220Lys
ENST00000622434.4:c.624T>G	ENSP00000479991.1:p.Asn208Lys
NM_001034116.1:c.669T>G	NP_001029288.1:p.Asn223Lys
NM_015636.3:c.666T>G	NP_056451.3:p.Asn222Lys
NM_172195.3:c.729T>G	NP_751945.2:p.Asn243Lys
XM_005264632.1:c.624T>G	XP_005264689.1:p.Asn208Lys
XM_006712132.1:c.621T>G	XP_006712195.1:p.Asn207Lys
XM_011533147.1:c.51T>G	XP_011531449.1:p.Asn17Lys
NM_001318965.1:c.732T>G	NP_001305894.1:p.Asn244Lys
NM_001318966.1:c.624T>G	NP_001305895.1:p.Asn208Lys
NM_001318967.1:c.576T>G	NP_001305896.1:p.Asn192Lys
NM_001318968.1:c.84T>G	NP_001305897.1:p.Asn28Lys
NM_001318969.1:c.51T>G	NP_001305898.1:p.Asn17Lys
XM_011533147.2:c.51T>G	XP_011531449.1:p.Asn17Lys
NM_001034116.2:c.669T>G MANE Select	NP_001029288.1:p.Asn223Lys
NM_001318965.2:c.732T>G	NP_001305894.1:p.Asn244Lys
NM_001318966.2:c.624T>G	NP_001305895.1:p.Asn208Lys
NM_001318967.2:c.576T>G	NP_001305896.1:p.Asn192Lys
NM_001318968.2:c.84T>G	NP_001305897.1:p.Asn28Lys
NM_001318969.2:c.51T>G	NP_001305898.1:p.Asn17Lys
NM_015636.4:c.666T>G	NP_056451.3:p.Asn222Lys
NM_172195.4:c.729T>G	NP_751945.2:p.Asn243Lys