Canonical Allele Identifier: CA2658337693

Gene: EIF2B4

Linked Data

• gnomAD v4: 2-27367882-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27367882C>T , CM000664.2:g.27367882C>T	GRCh38
NC_000002.11:g.27590749C>T , CM000664.1:g.27590749C>T	GRCh37
NC_000002.10:g.27444253C>T	NCBI36
NG_009305.1:g.7576G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.706-60G>A MANE Select	ENSP00000233552.6:n.706-60G>A
ENST00000347454.8:c.706-60G>A	ENSP00000233552.5:n.706-60G>A
ENST00000405940.6:c.680-60G>A	ENSP00000384375.2:n.680-60G>A
ENST00000417567.1:c.282-60G>A
ENST00000445933.6:c.703-60G>A	ENSP00000394397.2:n.703-60G>A
ENST00000451130.6:c.766-60G>A	ENSP00000394869.2:n.766-60G>A
ENST00000475582.5:n.1969G>A
ENST00000493344.6:c.769-60G>A	ENSP00000429323.1:n.769-60G>A
ENST00000616081.4:c.697-60G>A	ENSP00000477710.1:n.697-60G>A
ENST00000622434.4:c.661-60G>A	ENSP00000479991.1:n.661-60G>A
NM_001034116.1:c.706-60G>A	NP_001029288.1:n.706-60G>A
NM_015636.3:c.703-60G>A	NP_056451.3:n.703-60G>A
NM_172195.3:c.766-60G>A	NP_751945.2:n.766-60G>A
XM_005264632.1:c.661-60G>A	XP_005264689.1:n.661-60G>A
XM_006712132.1:c.658-60G>A	XP_006712195.1:n.658-60G>A
XM_011533147.1:c.88-60G>A	XP_011531449.1:n.88-60G>A
NM_001318965.1:c.769-60G>A	NP_001305894.1:n.769-60G>A
NM_001318966.1:c.661-60G>A	NP_001305895.1:n.661-60G>A
NM_001318967.1:c.613-60G>A	NP_001305896.1:n.613-60G>A
NM_001318968.1:c.121-60G>A	NP_001305897.1:n.121-60G>A
NM_001318969.1:c.88-60G>A	NP_001305898.1:n.88-60G>A
XM_011533147.2:c.88-60G>A	XP_011531449.1:n.88-60G>A
NM_001034116.2:c.706-60G>A MANE Select	NP_001029288.1:n.706-60G>A
NM_001318965.2:c.769-60G>A	NP_001305894.1:n.769-60G>A
NM_001318966.2:c.661-60G>A	NP_001305895.1:n.661-60G>A
NM_001318967.2:c.613-60G>A	NP_001305896.1:n.613-60G>A
NM_001318968.2:c.121-60G>A	NP_001305897.1:n.121-60G>A
NM_001318969.2:c.88-60G>A	NP_001305898.1:n.88-60G>A
NM_015636.4:c.703-60G>A	NP_056451.3:n.703-60G>A
NM_172195.4:c.766-60G>A	NP_751945.2:n.766-60G>A