Canonical Allele Identifier: CA425411302

Gene: EIF2B4

Linked Data

• dbSNP Id: rs1314802247
• gnomAD v3: 2-27367793-A-G
• gnomAD v4: 2-27367793-A-G
• MyVariant Identifiers: chr2:g.27590660A>G (hg19) ; chr2:g.27367793A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27367793A>G , CM000664.2:g.27367793A>G	GRCh38
NC_000002.11:g.27590660A>G , CM000664.1:g.27590660A>G	GRCh37
NC_000002.10:g.27444164A>G	NCBI36
NG_009305.1:g.7665T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.735T>C MANE Select	ENSP00000233552.6:p.Asn245=
ENST00000347454.8:c.735T>C	ENSP00000233552.5:p.Asn245=
ENST00000405940.6:c.*1T>C	ENSP00000384375.2:n.*1T>C
ENST00000417567.1:c.311T>C
ENST00000445933.6:c.732T>C	ENSP00000394397.2:p.Asn244=
ENST00000451130.6:c.795T>C	ENSP00000394869.2:p.Asn265=
ENST00000475582.5:n.2058T>C
ENST00000493344.6:c.798T>C	ENSP00000429323.1:p.Asn266=
ENST00000616081.4:c.726T>C	ENSP00000477710.1:p.Asn242=
ENST00000622434.4:c.*1T>C	ENSP00000479991.1:n.*1T>C
NM_001034116.1:c.735T>C	NP_001029288.1:p.Asn245=
NM_015636.3:c.732T>C	NP_056451.3:p.Asn244=
NM_172195.3:c.795T>C	NP_751945.2:p.Asn265=
XM_005264632.1:c.690T>C	XP_005264689.1:p.Asn230=
XM_006712132.1:c.687T>C	XP_006712195.1:p.Asn229=
XM_011533147.1:c.117T>C	XP_011531449.1:p.Asn39=
NM_001318965.1:c.798T>C	NP_001305894.1:p.Asn266=
NM_001318966.1:c.690T>C	NP_001305895.1:p.Asn230=
NM_001318967.1:c.642T>C	NP_001305896.1:p.Asn214=
NM_001318968.1:c.150T>C	NP_001305897.1:p.Asn50=
NM_001318969.1:c.117T>C	NP_001305898.1:p.Asn39=
XM_011533147.2:c.117T>C	XP_011531449.1:p.Asn39=
NM_001034116.2:c.735T>C MANE Select	NP_001029288.1:p.Asn245=
NM_001318965.2:c.798T>C	NP_001305894.1:p.Asn266=
NM_001318966.2:c.690T>C	NP_001305895.1:p.Asn230=
NM_001318967.2:c.642T>C	NP_001305896.1:p.Asn214=
NM_001318968.2:c.150T>C	NP_001305897.1:p.Asn50=
NM_001318969.2:c.117T>C	NP_001305898.1:p.Asn39=
NM_015636.4:c.732T>C	NP_056451.3:p.Asn244=
NM_172195.4:c.795T>C	NP_751945.2:p.Asn265=