Canonical Allele Identifier: CA425410941

Gene: EIF2B4

Linked Data

• gnomAD v4: 2-27367553-C-T
• MyVariant Identifiers: chr2:g.27590420C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27367553C>T , CM000664.2:g.27367553C>T	GRCh38
NC_000002.11:g.27590420C>T , CM000664.1:g.27590420C>T	GRCh37
NC_000002.10:g.27443924C>T	NCBI36
NG_009305.1:g.7905G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.789G>A MANE Select	ENSP00000233552.6:p.Leu263=
ENST00000347454.8:c.789G>A	ENSP00000233552.5:p.Leu263=
ENST00000405940.6:c.*55G>A	ENSP00000384375.2:n.*55G>A
ENST00000417567.1:c.365G>A
ENST00000445933.6:c.786G>A	ENSP00000394397.2:p.Leu262=
ENST00000451130.6:c.849G>A	ENSP00000394869.2:p.Leu283=
ENST00000475582.5:n.2298G>A
ENST00000493344.6:c.852G>A	ENSP00000429323.1:p.Leu284=
ENST00000616081.4:c.780G>A	ENSP00000477710.1:p.Leu260=
ENST00000622434.4:c.*55G>A	ENSP00000479991.1:n.*55G>A
NM_001034116.1:c.789G>A	NP_001029288.1:p.Leu263=
NM_015636.3:c.786G>A	NP_056451.3:p.Leu262=
NM_172195.3:c.849G>A	NP_751945.2:p.Leu283=
XM_005264632.1:c.744G>A	XP_005264689.1:p.Leu248=
XM_006712132.1:c.741G>A	XP_006712195.1:p.Leu247=
XM_011533147.1:c.171G>A	XP_011531449.1:p.Leu57=
NM_001318965.1:c.852G>A	NP_001305894.1:p.Leu284=
NM_001318966.1:c.744G>A	NP_001305895.1:p.Leu248=
NM_001318967.1:c.696G>A	NP_001305896.1:p.Leu232=
NM_001318968.1:c.204G>A	NP_001305897.1:p.Leu68=
NM_001318969.1:c.171G>A	NP_001305898.1:p.Leu57=
XM_011533147.2:c.171G>A	XP_011531449.1:p.Leu57=
NM_001034116.2:c.789G>A MANE Select	NP_001029288.1:p.Leu263=
NM_001318965.2:c.852G>A	NP_001305894.1:p.Leu284=
NM_001318966.2:c.744G>A	NP_001305895.1:p.Leu248=
NM_001318967.2:c.696G>A	NP_001305896.1:p.Leu232=
NM_001318968.2:c.204G>A	NP_001305897.1:p.Leu68=
NM_001318969.2:c.171G>A	NP_001305898.1:p.Leu57=
NM_015636.4:c.786G>A	NP_056451.3:p.Leu262=
NM_172195.4:c.849G>A	NP_751945.2:p.Leu283=