Canonical Allele Identifier: CA346200095

Gene: EIF2B4

Linked Data

• MyVariant Identifiers: chr2:g.27590902G>A (hg19) ; chr2:g.27368035G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27368035G>A , CM000664.2:g.27368035G>A	GRCh38
NC_000002.11:g.27590902G>A , CM000664.1:g.27590902G>A	GRCh37
NC_000002.10:g.27444406G>A	NCBI36
NG_009305.1:g.7423C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.695C>T MANE Select	ENSP00000233552.6:p.Ala232Val
ENST00000347454.8:c.695C>T	ENSP00000233552.5:p.Ala232Val
ENST00000405940.6:c.669C>T	ENSP00000384375.2:p.Cys223=
ENST00000417567.1:c.271C>T
ENST00000445933.6:c.692C>T	ENSP00000394397.2:p.Ala231Val
ENST00000451130.6:c.755C>T	ENSP00000394869.2:p.Ala252Val
ENST00000475582.5:n.1816C>T
ENST00000493344.6:c.758C>T	ENSP00000429323.1:p.Ala253Val
ENST00000616081.4:c.686C>T	ENSP00000477710.1:p.Ala229Val
ENST00000622434.4:c.650C>T	ENSP00000479991.1:p.Ala217Val
NM_001034116.1:c.695C>T	NP_001029288.1:p.Ala232Val
NM_015636.3:c.692C>T	NP_056451.3:p.Ala231Val
NM_172195.3:c.755C>T	NP_751945.2:p.Ala252Val
XM_005264632.1:c.650C>T	XP_005264689.1:p.Ala217Val
XM_006712132.1:c.647C>T	XP_006712195.1:p.Ala216Val
XM_011533147.1:c.77C>T	XP_011531449.1:p.Ala26Val
NM_001318965.1:c.758C>T	NP_001305894.1:p.Ala253Val
NM_001318966.1:c.650C>T	NP_001305895.1:p.Ala217Val
NM_001318967.1:c.602C>T	NP_001305896.1:p.Ala201Val
NM_001318968.1:c.110C>T	NP_001305897.1:p.Ala37Val
NM_001318969.1:c.77C>T	NP_001305898.1:p.Ala26Val
XM_011533147.2:c.77C>T	XP_011531449.1:p.Ala26Val
NM_001034116.2:c.695C>T MANE Select	NP_001029288.1:p.Ala232Val
NM_001318965.2:c.758C>T	NP_001305894.1:p.Ala253Val
NM_001318966.2:c.650C>T	NP_001305895.1:p.Ala217Val
NM_001318967.2:c.602C>T	NP_001305896.1:p.Ala201Val
NM_001318968.2:c.110C>T	NP_001305897.1:p.Ala37Val
NM_001318969.2:c.77C>T	NP_001305898.1:p.Ala26Val
NM_015636.4:c.692C>T	NP_056451.3:p.Ala231Val
NM_172195.4:c.755C>T	NP_751945.2:p.Ala252Val