Canonical Allele Identifier: CA346199761

Gene: EIF2B4

Linked Data

• MyVariant Identifiers: chr2:g.27590662T>C (hg19) ; chr2:g.27367795T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27367795T>C , CM000664.2:g.27367795T>C	GRCh38
NC_000002.11:g.27590662T>C , CM000664.1:g.27590662T>C	GRCh37
NC_000002.10:g.27444166T>C	NCBI36
NG_009305.1:g.7663A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.733A>G MANE Select	ENSP00000233552.6:p.Asn245Asp
ENST00000347454.8:c.733A>G	ENSP00000233552.5:p.Asn245Asp
ENST00000405940.6:c.707A>G	ENSP00000384375.2:p.Ter236=
ENST00000417567.1:c.309A>G
ENST00000445933.6:c.730A>G	ENSP00000394397.2:p.Asn244Asp
ENST00000451130.6:c.793A>G	ENSP00000394869.2:p.Asn265Asp
ENST00000475582.5:n.2056A>G
ENST00000493344.6:c.796A>G	ENSP00000429323.1:p.Asn266Asp
ENST00000616081.4:c.724A>G	ENSP00000477710.1:p.Asn242Asp
ENST00000622434.4:c.686A>G	ENSP00000479991.1:p.Ter229=
NM_001034116.1:c.733A>G	NP_001029288.1:p.Asn245Asp
NM_015636.3:c.730A>G	NP_056451.3:p.Asn244Asp
NM_172195.3:c.793A>G	NP_751945.2:p.Asn265Asp
XM_005264632.1:c.688A>G	XP_005264689.1:p.Asn230Asp
XM_006712132.1:c.685A>G	XP_006712195.1:p.Asn229Asp
XM_011533147.1:c.115A>G	XP_011531449.1:p.Asn39Asp
NM_001318965.1:c.796A>G	NP_001305894.1:p.Asn266Asp
NM_001318966.1:c.688A>G	NP_001305895.1:p.Asn230Asp
NM_001318967.1:c.640A>G	NP_001305896.1:p.Asn214Asp
NM_001318968.1:c.148A>G	NP_001305897.1:p.Asn50Asp
NM_001318969.1:c.115A>G	NP_001305898.1:p.Asn39Asp
XM_011533147.2:c.115A>G	XP_011531449.1:p.Asn39Asp
NM_001034116.2:c.733A>G MANE Select	NP_001029288.1:p.Asn245Asp
NM_001318965.2:c.796A>G	NP_001305894.1:p.Asn266Asp
NM_001318966.2:c.688A>G	NP_001305895.1:p.Asn230Asp
NM_001318967.2:c.640A>G	NP_001305896.1:p.Asn214Asp
NM_001318968.2:c.148A>G	NP_001305897.1:p.Asn50Asp
NM_001318969.2:c.115A>G	NP_001305898.1:p.Asn39Asp
NM_015636.4:c.730A>G	NP_056451.3:p.Asn244Asp
NM_172195.4:c.793A>G	NP_751945.2:p.Asn265Asp