Canonical Allele Identifier: CA346199442

Gene: EIF2B4

Linked Data

• gnomAD v4: 2-27367561-T-C
• MyVariant Identifiers: chr2:g.27590428T>C (hg19) ; chr2:g.27367561T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27367561T>C , CM000664.2:g.27367561T>C	GRCh38
NC_000002.11:g.27590428T>C , CM000664.1:g.27590428T>C	GRCh37
NC_000002.10:g.27443932T>C	NCBI36
NG_009305.1:g.7897A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.783-2A>G MANE Select	ENSP00000233552.6:n.783-2A>G
ENST00000347454.8:c.783-2A>G	ENSP00000233552.5:n.783-2A>G
ENST00000405940.6:c.*49-2A>G	ENSP00000384375.2:n.*49-2A>G
ENST00000417567.1:c.359-2A>G
ENST00000445933.6:c.780-2A>G	ENSP00000394397.2:n.780-2A>G
ENST00000451130.6:c.843-2A>G	ENSP00000394869.2:n.843-2A>G
ENST00000475582.5:n.2290A>G
ENST00000493344.6:c.846-2A>G	ENSP00000429323.1:n.846-2A>G
ENST00000616081.4:c.774-2A>G	ENSP00000477710.1:n.774-2A>G
ENST00000622434.4:c.*49-2A>G	ENSP00000479991.1:n.*49-2A>G
NM_001034116.1:c.783-2A>G	NP_001029288.1:n.783-2A>G
NM_015636.3:c.780-2A>G	NP_056451.3:n.780-2A>G
NM_172195.3:c.843-2A>G	NP_751945.2:n.843-2A>G
XM_005264632.1:c.738-2A>G	XP_005264689.1:n.738-2A>G
XM_006712132.1:c.735-2A>G	XP_006712195.1:n.735-2A>G
XM_011533147.1:c.165-2A>G	XP_011531449.1:n.165-2A>G
NM_001318965.1:c.846-2A>G	NP_001305894.1:n.846-2A>G
NM_001318966.1:c.738-2A>G	NP_001305895.1:n.738-2A>G
NM_001318967.1:c.690-2A>G	NP_001305896.1:n.690-2A>G
NM_001318968.1:c.198-2A>G	NP_001305897.1:n.198-2A>G
NM_001318969.1:c.165-2A>G	NP_001305898.1:n.165-2A>G
XM_011533147.2:c.165-2A>G	XP_011531449.1:n.165-2A>G
NM_001034116.2:c.783-2A>G MANE Select	NP_001029288.1:n.783-2A>G
NM_001318965.2:c.846-2A>G	NP_001305894.1:n.846-2A>G
NM_001318966.2:c.738-2A>G	NP_001305895.1:n.738-2A>G
NM_001318967.2:c.690-2A>G	NP_001305896.1:n.690-2A>G
NM_001318968.2:c.198-2A>G	NP_001305897.1:n.198-2A>G
NM_001318969.2:c.165-2A>G	NP_001305898.1:n.165-2A>G
NM_015636.4:c.780-2A>G	NP_056451.3:n.780-2A>G
NM_172195.4:c.843-2A>G	NP_751945.2:n.843-2A>G