Canonical Allele Identifier: CA346199803

Gene: EIF2B4

Linked Data

• MyVariant Identifiers: chr2:g.27590670G>C (hg19) ; chr2:g.27367803G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27367803G>C , CM000664.2:g.27367803G>C	GRCh38
NC_000002.11:g.27590670G>C , CM000664.1:g.27590670G>C	GRCh37
NC_000002.10:g.27444174G>C	NCBI36
NG_009305.1:g.7655C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.725C>G MANE Select	ENSP00000233552.6:p.Thr242Arg
ENST00000347454.8:c.725C>G	ENSP00000233552.5:p.Thr242Arg
ENST00000405940.6:c.699C>G	ENSP00000384375.2:p.Asn233Lys
ENST00000417567.1:c.301C>G
ENST00000445933.6:c.722C>G	ENSP00000394397.2:p.Thr241Arg
ENST00000451130.6:c.785C>G	ENSP00000394869.2:p.Thr262Arg
ENST00000475582.5:n.2048C>G
ENST00000493344.6:c.788C>G	ENSP00000429323.1:p.Thr263Arg
ENST00000616081.4:c.716C>G	ENSP00000477710.1:p.Thr239Arg
ENST00000622434.4:c.679-1C>G	ENSP00000479991.1:n.679-1C>G
NM_001034116.1:c.725C>G	NP_001029288.1:p.Thr242Arg
NM_015636.3:c.722C>G	NP_056451.3:p.Thr241Arg
NM_172195.3:c.785C>G	NP_751945.2:p.Thr262Arg
XM_005264632.1:c.680C>G	XP_005264689.1:p.Thr227Arg
XM_006712132.1:c.677C>G	XP_006712195.1:p.Thr226Arg
XM_011533147.1:c.107C>G	XP_011531449.1:p.Thr36Arg
NM_001318965.1:c.788C>G	NP_001305894.1:p.Thr263Arg
NM_001318966.1:c.680C>G	NP_001305895.1:p.Thr227Arg
NM_001318967.1:c.632C>G	NP_001305896.1:p.Thr211Arg
NM_001318968.1:c.140C>G	NP_001305897.1:p.Thr47Arg
NM_001318969.1:c.107C>G	NP_001305898.1:p.Thr36Arg
XM_011533147.2:c.107C>G	XP_011531449.1:p.Thr36Arg
NM_001034116.2:c.725C>G MANE Select	NP_001029288.1:p.Thr242Arg
NM_001318965.2:c.788C>G	NP_001305894.1:p.Thr263Arg
NM_001318966.2:c.680C>G	NP_001305895.1:p.Thr227Arg
NM_001318967.2:c.632C>G	NP_001305896.1:p.Thr211Arg
NM_001318968.2:c.140C>G	NP_001305897.1:p.Thr47Arg
NM_001318969.2:c.107C>G	NP_001305898.1:p.Thr36Arg
NM_015636.4:c.722C>G	NP_056451.3:p.Thr241Arg
NM_172195.4:c.785C>G	NP_751945.2:p.Thr262Arg