Canonical Allele Identifier: CA346199760

Gene: EIF2B4

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.733A>T MANE Select	ENSP00000233552.6:p.Asn245Tyr
ENST00000347454.8:c.733A>T	ENSP00000233552.5:p.Asn245Tyr
ENST00000405940.6:c.707A>T	ENSP00000384375.2:p.Ter236Leu
ENST00000417567.1:c.309A>T
ENST00000445933.6:c.730A>T	ENSP00000394397.2:p.Asn244Tyr
ENST00000451130.6:c.793A>T	ENSP00000394869.2:p.Asn265Tyr
ENST00000475582.5:n.2056A>T
ENST00000493344.6:c.796A>T	ENSP00000429323.1:p.Asn266Tyr
ENST00000616081.4:c.724A>T	ENSP00000477710.1:p.Asn242Tyr
ENST00000622434.4:c.686A>T	ENSP00000479991.1:p.Ter229Leu
NM_001034116.1:c.733A>T	NP_001029288.1:p.Asn245Tyr
NM_015636.3:c.730A>T	NP_056451.3:p.Asn244Tyr
NM_172195.3:c.793A>T	NP_751945.2:p.Asn265Tyr
XM_005264632.1:c.688A>T	XP_005264689.1:p.Asn230Tyr
XM_006712132.1:c.685A>T	XP_006712195.1:p.Asn229Tyr
XM_011533147.1:c.115A>T	XP_011531449.1:p.Asn39Tyr
NM_001318965.1:c.796A>T	NP_001305894.1:p.Asn266Tyr
NM_001318966.1:c.688A>T	NP_001305895.1:p.Asn230Tyr
NM_001318967.1:c.640A>T	NP_001305896.1:p.Asn214Tyr
NM_001318968.1:c.148A>T	NP_001305897.1:p.Asn50Tyr
NM_001318969.1:c.115A>T	NP_001305898.1:p.Asn39Tyr
XM_011533147.2:c.115A>T	XP_011531449.1:p.Asn39Tyr
NM_001034116.2:c.733A>T MANE Select	NP_001029288.1:p.Asn245Tyr
NM_001318965.2:c.796A>T	NP_001305894.1:p.Asn266Tyr
NM_001318966.2:c.688A>T	NP_001305895.1:p.Asn230Tyr
NM_001318967.2:c.640A>T	NP_001305896.1:p.Asn214Tyr
NM_001318968.2:c.148A>T	NP_001305897.1:p.Asn50Tyr
NM_001318969.2:c.115A>T	NP_001305898.1:p.Asn39Tyr
NM_015636.4:c.730A>T	NP_056451.3:p.Asn244Tyr
NM_172195.4:c.793A>T	NP_751945.2:p.Asn265Tyr