Canonical Allele Identifier: CA1576768

Gene: EIF2B4

Linked Data

• ClinVar Variation Id: 897413
• ClinVar RCV Id: RCV001140652 ; RCV002070685
• dbSNP Id: rs143926434
• ExAC: 2:27590418 G / T
• gnomAD v2: 2-27590418-G-T
• gnomAD v3: 2-27367551-G-T
• gnomAD v4: 2-27367551-G-T
• MyVariant Identifiers: chr2:g.27590418G>T (hg19) ; chr2:g.27367551G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27367551G>T , CM000664.2:g.27367551G>T	GRCh38
NC_000002.11:g.27590418G>T , CM000664.1:g.27590418G>T	GRCh37
NC_000002.10:g.27443922G>T	NCBI36
NG_009305.1:g.7907C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000347454.9:c.791C>A MANE Select	ENSP00000233552.6:p.Thr264Asn
ENST00000347454.8:c.791C>A	ENSP00000233552.5:p.Thr264Asn
ENST00000405940.6:c.*57C>A	ENSP00000384375.2:n.*57C>A
ENST00000417567.1:c.367C>A
ENST00000445933.6:c.788C>A	ENSP00000394397.2:p.Thr263Asn
ENST00000451130.6:c.851C>A	ENSP00000394869.2:p.Thr284Asn
ENST00000475582.5:n.2300C>A
ENST00000493344.6:c.854C>A	ENSP00000429323.1:p.Thr285Asn
ENST00000616081.4:c.782C>A	ENSP00000477710.1:p.Thr261Asn
ENST00000622434.4:c.*57C>A	ENSP00000479991.1:n.*57C>A
NM_001034116.1:c.791C>A	NP_001029288.1:p.Thr264Asn
NM_015636.3:c.788C>A	NP_056451.3:p.Thr263Asn
NM_172195.3:c.851C>A	NP_751945.2:p.Thr284Asn
XM_005264632.1:c.746C>A	XP_005264689.1:p.Thr249Asn
XM_006712132.1:c.743C>A	XP_006712195.1:p.Thr248Asn
XM_011533147.1:c.173C>A	XP_011531449.1:p.Thr58Asn
NM_001318965.1:c.854C>A	NP_001305894.1:p.Thr285Asn
NM_001318966.1:c.746C>A	NP_001305895.1:p.Thr249Asn
NM_001318967.1:c.698C>A	NP_001305896.1:p.Thr233Asn
NM_001318968.1:c.206C>A	NP_001305897.1:p.Thr69Asn
NM_001318969.1:c.173C>A	NP_001305898.1:p.Thr58Asn
XM_011533147.2:c.173C>A	XP_011531449.1:p.Thr58Asn
NM_001034116.2:c.791C>A MANE Select	NP_001029288.1:p.Thr264Asn
NM_001318965.2:c.854C>A	NP_001305894.1:p.Thr285Asn
NM_001318966.2:c.746C>A	NP_001305895.1:p.Thr249Asn
NM_001318967.2:c.698C>A	NP_001305896.1:p.Thr233Asn
NM_001318968.2:c.206C>A	NP_001305897.1:p.Thr69Asn
NM_001318969.2:c.173C>A	NP_001305898.1:p.Thr58Asn
NM_015636.4:c.788C>A	NP_056451.3:p.Thr263Asn
NM_172195.4:c.851C>A	NP_751945.2:p.Thr284Asn