Canonical Allele Identifier: CA346200392

Gene: EIF2B4

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27368099C>A , CM000664.2:g.27368099C>A	GRCh38
NC_000002.11:g.27590966C>A , CM000664.1:g.27590966C>A	GRCh37
NC_000002.10:g.27444470C>A	NCBI36
NG_009305.1:g.7359G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001034116.2:c.631G>T MANE Select	NP_001029288.1:p.Gly211Cys
ENST00000347454.9:c.631G>T MANE Select	ENSP00000233552.6:p.Gly211Cys
NM_001034116.1:c.631G>T	NP_001029288.1:p.Gly211Cys
NM_001318965.1:c.694G>T	NP_001305894.1:p.Gly232Cys
NM_001318965.2:c.694G>T	NP_001305894.1:p.Gly232Cys
NM_001318966.1:c.586G>T	NP_001305895.1:p.Gly196Cys
NM_001318966.2:c.586G>T	NP_001305895.1:p.Gly196Cys
NM_001318967.1:c.538G>T	NP_001305896.1:p.Gly180Cys
NM_001318967.2:c.538G>T	NP_001305896.1:p.Gly180Cys
NM_001318968.1:c.46G>T	NP_001305897.1:p.Gly16Cys
NM_001318968.2:c.46G>T	NP_001305897.1:p.Gly16Cys
NM_001318969.1:c.13G>T	NP_001305898.1:p.Gly5Cys
NM_001318969.2:c.13G>T	NP_001305898.1:p.Gly5Cys
NM_015636.3:c.628G>T	NP_056451.3:p.Gly210Cys
NM_015636.4:c.628G>T	NP_056451.3:p.Gly210Cys
NM_172195.3:c.691G>T	NP_751945.2:p.Gly231Cys
NM_172195.4:c.691G>T	NP_751945.2:p.Gly231Cys
ENST00000347454.8:c.631G>T	ENSP00000233552.5:p.Gly211Cys
ENST00000405940.6:c.605G>T	ENSP00000384375.2:p.Arg202Leu
ENST00000417567.1:c.207G>T
ENST00000445933.6:c.628G>T	ENSP00000394397.2:p.Gly210Cys
ENST00000451130.6:c.691G>T	ENSP00000394869.2:p.Gly231Cys
ENST00000475582.5:n.1752G>T
ENST00000493344.6:c.694G>T	ENSP00000429323.1:p.Gly232Cys
ENST00000616081.4:c.622G>T	ENSP00000477710.1:p.Gly208Cys
ENST00000622434.4:c.586G>T	ENSP00000479991.1:p.Gly196Cys
XM_005264632.1:c.586G>T	XP_005264689.1:p.Gly196Cys
XM_006712132.1:c.583G>T	XP_006712195.1:p.Gly195Cys
XM_011533147.1:c.13G>T	XP_011531449.1:p.Gly5Cys
XM_011533147.2:c.13G>T	XP_011531449.1:p.Gly5Cys