Canonical Allele Identifier: CA346199771

Gene: EIF2B4

Linked Data

• dbSNP Id: rs1681973637
• gnomAD v3: 2-27367798-G-C
• gnomAD v4: 2-27367798-G-C
• MyVariant Identifiers: chr2:g.27590665G>C (hg19) ; chr2:g.27367798G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27367798G>C , CM000664.2:g.27367798G>C	GRCh38
NC_000002.11:g.27590665G>C , CM000664.1:g.27590665G>C	GRCh37
NC_000002.10:g.27444169G>C	NCBI36
NG_009305.1:g.7660C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.730C>G MANE Select	ENSP00000233552.6:p.Pro244Ala
ENST00000347454.8:c.730C>G	ENSP00000233552.5:p.Pro244Ala
ENST00000405940.6:c.704C>G	ENSP00000384375.2:p.Ala235Gly
ENST00000417567.1:c.306C>G
ENST00000445933.6:c.727C>G	ENSP00000394397.2:p.Pro243Ala
ENST00000451130.6:c.790C>G	ENSP00000394869.2:p.Pro264Ala
ENST00000475582.5:n.2053C>G
ENST00000493344.6:c.793C>G	ENSP00000429323.1:p.Pro265Ala
ENST00000616081.4:c.721C>G	ENSP00000477710.1:p.Pro241Ala
ENST00000622434.4:c.683C>G	ENSP00000479991.1:p.Ala228Gly
NM_001034116.1:c.730C>G	NP_001029288.1:p.Pro244Ala
NM_015636.3:c.727C>G	NP_056451.3:p.Pro243Ala
NM_172195.3:c.790C>G	NP_751945.2:p.Pro264Ala
XM_005264632.1:c.685C>G	XP_005264689.1:p.Pro229Ala
XM_006712132.1:c.682C>G	XP_006712195.1:p.Pro228Ala
XM_011533147.1:c.112C>G	XP_011531449.1:p.Pro38Ala
NM_001318965.1:c.793C>G	NP_001305894.1:p.Pro265Ala
NM_001318966.1:c.685C>G	NP_001305895.1:p.Pro229Ala
NM_001318967.1:c.637C>G	NP_001305896.1:p.Pro213Ala
NM_001318968.1:c.145C>G	NP_001305897.1:p.Pro49Ala
NM_001318969.1:c.112C>G	NP_001305898.1:p.Pro38Ala
XM_011533147.2:c.112C>G	XP_011531449.1:p.Pro38Ala
NM_001034116.2:c.730C>G MANE Select	NP_001029288.1:p.Pro244Ala
NM_001318965.2:c.793C>G	NP_001305894.1:p.Pro265Ala
NM_001318966.2:c.685C>G	NP_001305895.1:p.Pro229Ala
NM_001318967.2:c.637C>G	NP_001305896.1:p.Pro213Ala
NM_001318968.2:c.145C>G	NP_001305897.1:p.Pro49Ala
NM_001318969.2:c.112C>G	NP_001305898.1:p.Pro38Ala
NM_015636.4:c.727C>G	NP_056451.3:p.Pro243Ala
NM_172195.4:c.790C>G	NP_751945.2:p.Pro264Ala