Canonical Allele Identifier: CA425411309

Gene: EIF2B4

Linked Data

• MyVariant Identifiers: chr2:g.27590672T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27367805T>G , CM000664.2:g.27367805T>G	GRCh38
NC_000002.11:g.27590672T>G , CM000664.1:g.27590672T>G	GRCh37
NC_000002.10:g.27444176T>G	NCBI36
NG_009305.1:g.7653A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.723A>C MANE Select	ENSP00000233552.6:p.Thr241=
ENST00000347454.8:c.723A>C	ENSP00000233552.5:p.Thr241=
ENST00000405940.6:c.697A>C	ENSP00000384375.2:p.Asn233His
ENST00000417567.1:c.299A>C
ENST00000445933.6:c.720A>C	ENSP00000394397.2:p.Thr240=
ENST00000451130.6:c.783A>C	ENSP00000394869.2:p.Thr261=
ENST00000475582.5:n.2046A>C
ENST00000493344.6:c.786A>C	ENSP00000429323.1:p.Thr262=
ENST00000616081.4:c.714A>C	ENSP00000477710.1:p.Thr238=
ENST00000622434.4:c.678A>C	ENSP00000479991.1:p.Thr226=
NM_001034116.1:c.723A>C	NP_001029288.1:p.Thr241=
NM_015636.3:c.720A>C	NP_056451.3:p.Thr240=
NM_172195.3:c.783A>C	NP_751945.2:p.Thr261=
XM_005264632.1:c.678A>C	XP_005264689.1:p.Thr226=
XM_006712132.1:c.675A>C	XP_006712195.1:p.Thr225=
XM_011533147.1:c.105A>C	XP_011531449.1:p.Thr35=
NM_001318965.1:c.786A>C	NP_001305894.1:p.Thr262=
NM_001318966.1:c.678A>C	NP_001305895.1:p.Thr226=
NM_001318967.1:c.630A>C	NP_001305896.1:p.Thr210=
NM_001318968.1:c.138A>C	NP_001305897.1:p.Thr46=
NM_001318969.1:c.105A>C	NP_001305898.1:p.Thr35=
XM_011533147.2:c.105A>C	XP_011531449.1:p.Thr35=
NM_001034116.2:c.723A>C MANE Select	NP_001029288.1:p.Thr241=
NM_001318965.2:c.786A>C	NP_001305894.1:p.Thr262=
NM_001318966.2:c.678A>C	NP_001305895.1:p.Thr226=
NM_001318967.2:c.630A>C	NP_001305896.1:p.Thr210=
NM_001318968.2:c.138A>C	NP_001305897.1:p.Thr46=
NM_001318969.2:c.105A>C	NP_001305898.1:p.Thr35=
NM_015636.4:c.720A>C	NP_056451.3:p.Thr240=
NM_172195.4:c.783A>C	NP_751945.2:p.Thr261=