Canonical Allele Identifier: CA425411378

Gene: EIF2B4

Linked Data

• MyVariant Identifiers: chr2:g.27590687C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27367820C>T , CM000664.2:g.27367820C>T	GRCh38
NC_000002.11:g.27590687C>T , CM000664.1:g.27590687C>T	GRCh37
NC_000002.10:g.27444191C>T	NCBI36
NG_009305.1:g.7638G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.708G>A MANE Select	ENSP00000233552.6:p.Val236=
ENST00000347454.8:c.708G>A	ENSP00000233552.5:p.Val236=
ENST00000405940.6:c.682G>A	ENSP00000384375.2:p.Asp228Asn
ENST00000417567.1:c.284G>A
ENST00000445933.6:c.705G>A	ENSP00000394397.2:p.Val235=
ENST00000451130.6:c.768G>A	ENSP00000394869.2:p.Val256=
ENST00000475582.5:n.2031G>A
ENST00000493344.6:c.771G>A	ENSP00000429323.1:p.Val257=
ENST00000616081.4:c.699G>A	ENSP00000477710.1:p.Val233=
ENST00000622434.4:c.663G>A	ENSP00000479991.1:p.Val221=
NM_001034116.1:c.708G>A	NP_001029288.1:p.Val236=
NM_015636.3:c.705G>A	NP_056451.3:p.Val235=
NM_172195.3:c.768G>A	NP_751945.2:p.Val256=
XM_005264632.1:c.663G>A	XP_005264689.1:p.Val221=
XM_006712132.1:c.660G>A	XP_006712195.1:p.Val220=
XM_011533147.1:c.90G>A	XP_011531449.1:p.Val30=
NM_001318965.1:c.771G>A	NP_001305894.1:p.Val257=
NM_001318966.1:c.663G>A	NP_001305895.1:p.Val221=
NM_001318967.1:c.615G>A	NP_001305896.1:p.Val205=
NM_001318968.1:c.123G>A	NP_001305897.1:p.Val41=
NM_001318969.1:c.90G>A	NP_001305898.1:p.Val30=
XM_011533147.2:c.90G>A	XP_011531449.1:p.Val30=
NM_001034116.2:c.708G>A MANE Select	NP_001029288.1:p.Val236=
NM_001318965.2:c.771G>A	NP_001305894.1:p.Val257=
NM_001318966.2:c.663G>A	NP_001305895.1:p.Val221=
NM_001318967.2:c.615G>A	NP_001305896.1:p.Val205=
NM_001318968.2:c.123G>A	NP_001305897.1:p.Val41=
NM_001318969.2:c.90G>A	NP_001305898.1:p.Val30=
NM_015636.4:c.705G>A	NP_056451.3:p.Val235=
NM_172195.4:c.768G>A	NP_751945.2:p.Val256=