Canonical Allele Identifier: CA346199762

Gene: EIF2B4

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.733A>C MANE Select	ENSP00000233552.6:p.Asn245His
ENST00000347454.8:c.733A>C	ENSP00000233552.5:p.Asn245His
ENST00000405940.6:c.707A>C	ENSP00000384375.2:p.Ter236Ser
ENST00000417567.1:c.309A>C
ENST00000445933.6:c.730A>C	ENSP00000394397.2:p.Asn244His
ENST00000451130.6:c.793A>C	ENSP00000394869.2:p.Asn265His
ENST00000475582.5:n.2056A>C
ENST00000493344.6:c.796A>C	ENSP00000429323.1:p.Asn266His
ENST00000616081.4:c.724A>C	ENSP00000477710.1:p.Asn242His
ENST00000622434.4:c.686A>C	ENSP00000479991.1:p.Ter229Ser
NM_001034116.1:c.733A>C	NP_001029288.1:p.Asn245His
NM_015636.3:c.730A>C	NP_056451.3:p.Asn244His
NM_172195.3:c.793A>C	NP_751945.2:p.Asn265His
XM_005264632.1:c.688A>C	XP_005264689.1:p.Asn230His
XM_006712132.1:c.685A>C	XP_006712195.1:p.Asn229His
XM_011533147.1:c.115A>C	XP_011531449.1:p.Asn39His
NM_001318965.1:c.796A>C	NP_001305894.1:p.Asn266His
NM_001318966.1:c.688A>C	NP_001305895.1:p.Asn230His
NM_001318967.1:c.640A>C	NP_001305896.1:p.Asn214His
NM_001318968.1:c.148A>C	NP_001305897.1:p.Asn50His
NM_001318969.1:c.115A>C	NP_001305898.1:p.Asn39His
XM_011533147.2:c.115A>C	XP_011531449.1:p.Asn39His
NM_001034116.2:c.733A>C MANE Select	NP_001029288.1:p.Asn245His
NM_001318965.2:c.796A>C	NP_001305894.1:p.Asn266His
NM_001318966.2:c.688A>C	NP_001305895.1:p.Asn230His
NM_001318967.2:c.640A>C	NP_001305896.1:p.Asn214His
NM_001318968.2:c.148A>C	NP_001305897.1:p.Asn50His
NM_001318969.2:c.115A>C	NP_001305898.1:p.Asn39His
NM_015636.4:c.730A>C	NP_056451.3:p.Asn244His
NM_172195.4:c.793A>C	NP_751945.2:p.Asn265His