Canonical Allele Identifier: CA346199870

Gene: EIF2B4

Linked Data

• MyVariant Identifiers: chr2:g.27590679T>A (hg19) ; chr2:g.27367812T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27367812T>A , CM000664.2:g.27367812T>A	GRCh38
NC_000002.11:g.27590679T>A , CM000664.1:g.27590679T>A	GRCh37
NC_000002.10:g.27444183T>A	NCBI36
NG_009305.1:g.7646A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.716A>T MANE Select	ENSP00000233552.6:p.Asp239Val
ENST00000347454.8:c.716A>T	ENSP00000233552.5:p.Asp239Val
ENST00000405940.6:c.690A>T	ENSP00000384375.2:p.Gly230=
ENST00000417567.1:c.292A>T
ENST00000445933.6:c.713A>T	ENSP00000394397.2:p.Asp238Val
ENST00000451130.6:c.776A>T	ENSP00000394869.2:p.Asp259Val
ENST00000475582.5:n.2039A>T
ENST00000493344.6:c.779A>T	ENSP00000429323.1:p.Asp260Val
ENST00000616081.4:c.707A>T	ENSP00000477710.1:p.Asp236Val
ENST00000622434.4:c.671A>T	ENSP00000479991.1:p.Asp224Val
NM_001034116.1:c.716A>T	NP_001029288.1:p.Asp239Val
NM_015636.3:c.713A>T	NP_056451.3:p.Asp238Val
NM_172195.3:c.776A>T	NP_751945.2:p.Asp259Val
XM_005264632.1:c.671A>T	XP_005264689.1:p.Asp224Val
XM_006712132.1:c.668A>T	XP_006712195.1:p.Asp223Val
XM_011533147.1:c.98A>T	XP_011531449.1:p.Asp33Val
NM_001318965.1:c.779A>T	NP_001305894.1:p.Asp260Val
NM_001318966.1:c.671A>T	NP_001305895.1:p.Asp224Val
NM_001318967.1:c.623A>T	NP_001305896.1:p.Asp208Val
NM_001318968.1:c.131A>T	NP_001305897.1:p.Asp44Val
NM_001318969.1:c.98A>T	NP_001305898.1:p.Asp33Val
XM_011533147.2:c.98A>T	XP_011531449.1:p.Asp33Val
NM_001034116.2:c.716A>T MANE Select	NP_001029288.1:p.Asp239Val
NM_001318965.2:c.779A>T	NP_001305894.1:p.Asp260Val
NM_001318966.2:c.671A>T	NP_001305895.1:p.Asp224Val
NM_001318967.2:c.623A>T	NP_001305896.1:p.Asp208Val
NM_001318968.2:c.131A>T	NP_001305897.1:p.Asp44Val
NM_001318969.2:c.98A>T	NP_001305898.1:p.Asp33Val
NM_015636.4:c.713A>T	NP_056451.3:p.Asp238Val
NM_172195.4:c.776A>T	NP_751945.2:p.Asp259Val