Canonical Allele Identifier: CA346200182

Gene: EIF2B4

Linked Data

• gnomAD v4: 2-27368051-T-A
• MyVariant Identifiers: chr2:g.27590918T>A (hg19) ; chr2:g.27368051T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27368051T>A , CM000664.2:g.27368051T>A	GRCh38
NC_000002.11:g.27590918T>A , CM000664.1:g.27590918T>A	GRCh37
NC_000002.10:g.27444422T>A	NCBI36
NG_009305.1:g.7407A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.679A>T MANE Select	ENSP00000233552.6:p.Ile227Phe
ENST00000347454.8:c.679A>T	ENSP00000233552.5:p.Ile227Phe
ENST00000405940.6:c.653A>T	ENSP00000384375.2:p.Tyr218Phe
ENST00000417567.1:c.255A>T
ENST00000445933.6:c.676A>T	ENSP00000394397.2:p.Ile226Phe
ENST00000451130.6:c.739A>T	ENSP00000394869.2:p.Ile247Phe
ENST00000475582.5:n.1800A>T
ENST00000493344.6:c.742A>T	ENSP00000429323.1:p.Ile248Phe
ENST00000616081.4:c.670A>T	ENSP00000477710.1:p.Ile224Phe
ENST00000622434.4:c.634A>T	ENSP00000479991.1:p.Ile212Phe
NM_001034116.1:c.679A>T	NP_001029288.1:p.Ile227Phe
NM_015636.3:c.676A>T	NP_056451.3:p.Ile226Phe
NM_172195.3:c.739A>T	NP_751945.2:p.Ile247Phe
XM_005264632.1:c.634A>T	XP_005264689.1:p.Ile212Phe
XM_006712132.1:c.631A>T	XP_006712195.1:p.Ile211Phe
XM_011533147.1:c.61A>T	XP_011531449.1:p.Ile21Phe
NM_001318965.1:c.742A>T	NP_001305894.1:p.Ile248Phe
NM_001318966.1:c.634A>T	NP_001305895.1:p.Ile212Phe
NM_001318967.1:c.586A>T	NP_001305896.1:p.Ile196Phe
NM_001318968.1:c.94A>T	NP_001305897.1:p.Ile32Phe
NM_001318969.1:c.61A>T	NP_001305898.1:p.Ile21Phe
XM_011533147.2:c.61A>T	XP_011531449.1:p.Ile21Phe
NM_001034116.2:c.679A>T MANE Select	NP_001029288.1:p.Ile227Phe
NM_001318965.2:c.742A>T	NP_001305894.1:p.Ile248Phe
NM_001318966.2:c.634A>T	NP_001305895.1:p.Ile212Phe
NM_001318967.2:c.586A>T	NP_001305896.1:p.Ile196Phe
NM_001318968.2:c.94A>T	NP_001305897.1:p.Ile32Phe
NM_001318969.2:c.61A>T	NP_001305898.1:p.Ile21Phe
NM_015636.4:c.676A>T	NP_056451.3:p.Ile226Phe
NM_172195.4:c.739A>T	NP_751945.2:p.Ile247Phe