Canonical Allele Identifier: CA2658337683

Gene: EIF2B4

Linked Data

• gnomAD v4: 2-27367864-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27367864A>G , CM000664.2:g.27367864A>G	GRCh38
NC_000002.11:g.27590731A>G , CM000664.1:g.27590731A>G	GRCh37
NC_000002.10:g.27444235A>G	NCBI36
NG_009305.1:g.7594T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.706-42T>C MANE Select	ENSP00000233552.6:n.706-42T>C
ENST00000347454.8:c.706-42T>C	ENSP00000233552.5:n.706-42T>C
ENST00000405940.6:c.680-42T>C	ENSP00000384375.2:n.680-42T>C
ENST00000417567.1:c.282-42T>C
ENST00000445933.6:c.703-42T>C	ENSP00000394397.2:n.703-42T>C
ENST00000451130.6:c.766-42T>C	ENSP00000394869.2:n.766-42T>C
ENST00000475582.5:n.1987T>C
ENST00000493344.6:c.769-42T>C	ENSP00000429323.1:n.769-42T>C
ENST00000616081.4:c.697-42T>C	ENSP00000477710.1:n.697-42T>C
ENST00000622434.4:c.661-42T>C	ENSP00000479991.1:n.661-42T>C
NM_001034116.1:c.706-42T>C	NP_001029288.1:n.706-42T>C
NM_015636.3:c.703-42T>C	NP_056451.3:n.703-42T>C
NM_172195.3:c.766-42T>C	NP_751945.2:n.766-42T>C
XM_005264632.1:c.661-42T>C	XP_005264689.1:n.661-42T>C
XM_006712132.1:c.658-42T>C	XP_006712195.1:n.658-42T>C
XM_011533147.1:c.88-42T>C	XP_011531449.1:n.88-42T>C
NM_001318965.1:c.769-42T>C	NP_001305894.1:n.769-42T>C
NM_001318966.1:c.661-42T>C	NP_001305895.1:n.661-42T>C
NM_001318967.1:c.613-42T>C	NP_001305896.1:n.613-42T>C
NM_001318968.1:c.121-42T>C	NP_001305897.1:n.121-42T>C
NM_001318969.1:c.88-42T>C	NP_001305898.1:n.88-42T>C
XM_011533147.2:c.88-42T>C	XP_011531449.1:n.88-42T>C
NM_001034116.2:c.706-42T>C MANE Select	NP_001029288.1:n.706-42T>C
NM_001318965.2:c.769-42T>C	NP_001305894.1:n.769-42T>C
NM_001318966.2:c.661-42T>C	NP_001305895.1:n.661-42T>C
NM_001318967.2:c.613-42T>C	NP_001305896.1:n.613-42T>C
NM_001318968.2:c.121-42T>C	NP_001305897.1:n.121-42T>C
NM_001318969.2:c.88-42T>C	NP_001305898.1:n.88-42T>C
NM_015636.4:c.703-42T>C	NP_056451.3:n.703-42T>C
NM_172195.4:c.766-42T>C	NP_751945.2:n.766-42T>C