Canonical Allele Identifier: CA346199926

Gene: EIF2B4

Linked Data

• MyVariant Identifiers: chr2:g.27590689C>A (hg19) ; chr2:g.27367822C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27367822C>A , CM000664.2:g.27367822C>A	GRCh38
NC_000002.11:g.27590689C>A , CM000664.1:g.27590689C>A	GRCh37
NC_000002.10:g.27444193C>A	NCBI36
NG_009305.1:g.7636G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.706G>T MANE Select	ENSP00000233552.6:p.Val236Leu
ENST00000347454.8:c.706G>T	ENSP00000233552.5:p.Val236Leu
ENST00000405940.6:c.680G>T	ENSP00000384375.2:p.Gly227Val
ENST00000417567.1:c.282G>T
ENST00000445933.6:c.703G>T	ENSP00000394397.2:p.Val235Leu
ENST00000451130.6:c.766G>T	ENSP00000394869.2:p.Val256Leu
ENST00000475582.5:n.2029G>T
ENST00000493344.6:c.769G>T	ENSP00000429323.1:p.Val257Leu
ENST00000616081.4:c.697G>T	ENSP00000477710.1:p.Val233Leu
ENST00000622434.4:c.661G>T	ENSP00000479991.1:p.Val221Leu
NM_001034116.1:c.706G>T	NP_001029288.1:p.Val236Leu
NM_015636.3:c.703G>T	NP_056451.3:p.Val235Leu
NM_172195.3:c.766G>T	NP_751945.2:p.Val256Leu
XM_005264632.1:c.661G>T	XP_005264689.1:p.Val221Leu
XM_006712132.1:c.658G>T	XP_006712195.1:p.Val220Leu
XM_011533147.1:c.88G>T	XP_011531449.1:p.Val30Leu
NM_001318965.1:c.769G>T	NP_001305894.1:p.Val257Leu
NM_001318966.1:c.661G>T	NP_001305895.1:p.Val221Leu
NM_001318967.1:c.613G>T	NP_001305896.1:p.Val205Leu
NM_001318968.1:c.121G>T	NP_001305897.1:p.Val41Leu
NM_001318969.1:c.88G>T	NP_001305898.1:p.Val30Leu
XM_011533147.2:c.88G>T	XP_011531449.1:p.Val30Leu
NM_001034116.2:c.706G>T MANE Select	NP_001029288.1:p.Val236Leu
NM_001318965.2:c.769G>T	NP_001305894.1:p.Val257Leu
NM_001318966.2:c.661G>T	NP_001305895.1:p.Val221Leu
NM_001318967.2:c.613G>T	NP_001305896.1:p.Val205Leu
NM_001318968.2:c.121G>T	NP_001305897.1:p.Val41Leu
NM_001318969.2:c.88G>T	NP_001305898.1:p.Val30Leu
NM_015636.4:c.703G>T	NP_056451.3:p.Val235Leu
NM_172195.4:c.766G>T	NP_751945.2:p.Val256Leu