Canonical Allele Identifier: CA425410945

Gene: EIF2B4

Linked Data

• MyVariant Identifiers: chr2:g.27590423G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27367556G>A , CM000664.2:g.27367556G>A	GRCh38
NC_000002.11:g.27590423G>A , CM000664.1:g.27590423G>A	GRCh37
NC_000002.10:g.27443927G>A	NCBI36
NG_009305.1:g.7902C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.786C>T MANE Select	ENSP00000233552.6:p.Phe262=
ENST00000347454.8:c.786C>T	ENSP00000233552.5:p.Phe262=
ENST00000405940.6:c.*52C>T	ENSP00000384375.2:n.*52C>T
ENST00000417567.1:c.362C>T
ENST00000445933.6:c.783C>T	ENSP00000394397.2:p.Phe261=
ENST00000451130.6:c.846C>T	ENSP00000394869.2:p.Phe282=
ENST00000475582.5:n.2295C>T
ENST00000493344.6:c.849C>T	ENSP00000429323.1:p.Phe283=
ENST00000616081.4:c.777C>T	ENSP00000477710.1:p.Phe259=
ENST00000622434.4:c.*52C>T	ENSP00000479991.1:n.*52C>T
NM_001034116.1:c.786C>T	NP_001029288.1:p.Phe262=
NM_015636.3:c.783C>T	NP_056451.3:p.Phe261=
NM_172195.3:c.846C>T	NP_751945.2:p.Phe282=
XM_005264632.1:c.741C>T	XP_005264689.1:p.Phe247=
XM_006712132.1:c.738C>T	XP_006712195.1:p.Phe246=
XM_011533147.1:c.168C>T	XP_011531449.1:p.Phe56=
NM_001318965.1:c.849C>T	NP_001305894.1:p.Phe283=
NM_001318966.1:c.741C>T	NP_001305895.1:p.Phe247=
NM_001318967.1:c.693C>T	NP_001305896.1:p.Phe231=
NM_001318968.1:c.201C>T	NP_001305897.1:p.Phe67=
NM_001318969.1:c.168C>T	NP_001305898.1:p.Phe56=
XM_011533147.2:c.168C>T	XP_011531449.1:p.Phe56=
NM_001034116.2:c.786C>T MANE Select	NP_001029288.1:p.Phe262=
NM_001318965.2:c.849C>T	NP_001305894.1:p.Phe283=
NM_001318966.2:c.741C>T	NP_001305895.1:p.Phe247=
NM_001318967.2:c.693C>T	NP_001305896.1:p.Phe231=
NM_001318968.2:c.201C>T	NP_001305897.1:p.Phe67=
NM_001318969.2:c.168C>T	NP_001305898.1:p.Phe56=
NM_015636.4:c.783C>T	NP_056451.3:p.Phe261=
NM_172195.4:c.846C>T	NP_751945.2:p.Phe282=