Canonical Allele Identifier: CA425411566

Gene: EIF2B4

Linked Data

• MyVariant Identifiers: chr2:g.27590916A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27368049A>T , CM000664.2:g.27368049A>T	GRCh38
NC_000002.11:g.27590916A>T , CM000664.1:g.27590916A>T	GRCh37
NC_000002.10:g.27444420A>T	NCBI36
NG_009305.1:g.7409T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.681T>A MANE Select	ENSP00000233552.6:p.Ile227=
ENST00000347454.8:c.681T>A	ENSP00000233552.5:p.Ile227=
ENST00000405940.6:c.655T>A	ENSP00000384375.2:p.Cys219Ser
ENST00000417567.1:c.257T>A
ENST00000445933.6:c.678T>A	ENSP00000394397.2:p.Ile226=
ENST00000451130.6:c.741T>A	ENSP00000394869.2:p.Ile247=
ENST00000475582.5:n.1802T>A
ENST00000493344.6:c.744T>A	ENSP00000429323.1:p.Ile248=
ENST00000616081.4:c.672T>A	ENSP00000477710.1:p.Ile224=
ENST00000622434.4:c.636T>A	ENSP00000479991.1:p.Ile212=
NM_001034116.1:c.681T>A	NP_001029288.1:p.Ile227=
NM_015636.3:c.678T>A	NP_056451.3:p.Ile226=
NM_172195.3:c.741T>A	NP_751945.2:p.Ile247=
XM_005264632.1:c.636T>A	XP_005264689.1:p.Ile212=
XM_006712132.1:c.633T>A	XP_006712195.1:p.Ile211=
XM_011533147.1:c.63T>A	XP_011531449.1:p.Ile21=
NM_001318965.1:c.744T>A	NP_001305894.1:p.Ile248=
NM_001318966.1:c.636T>A	NP_001305895.1:p.Ile212=
NM_001318967.1:c.588T>A	NP_001305896.1:p.Ile196=
NM_001318968.1:c.96T>A	NP_001305897.1:p.Ile32=
NM_001318969.1:c.63T>A	NP_001305898.1:p.Ile21=
XM_011533147.2:c.63T>A	XP_011531449.1:p.Ile21=
NM_001034116.2:c.681T>A MANE Select	NP_001029288.1:p.Ile227=
NM_001318965.2:c.744T>A	NP_001305894.1:p.Ile248=
NM_001318966.2:c.636T>A	NP_001305895.1:p.Ile212=
NM_001318967.2:c.588T>A	NP_001305896.1:p.Ile196=
NM_001318968.2:c.96T>A	NP_001305897.1:p.Ile32=
NM_001318969.2:c.63T>A	NP_001305898.1:p.Ile21=
NM_015636.4:c.678T>A	NP_056451.3:p.Ile226=
NM_172195.4:c.741T>A	NP_751945.2:p.Ile247=