Canonical Allele Identifier: CA44512859

Gene: EIF2B4

Linked Data

• dbSNP Id: rs990557179
• gnomAD v3: 2-27367975-T-C
• gnomAD v4: 2-27367975-T-C
• MyVariant Identifiers: chr2:g.27590842T>C (hg19) ; chr2:g.27367975T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27367975T>C , CM000664.2:g.27367975T>C	GRCh38
NC_000002.11:g.27590842T>C , CM000664.1:g.27590842T>C	GRCh37
NC_000002.10:g.27444346T>C	NCBI36
NG_009305.1:g.7483A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000347454.9:c.705+50A>G MANE Select	ENSP00000233552.6:n.705+50A>G
ENST00000347454.8:c.705+50A>G	ENSP00000233552.5:n.705+50A>G
ENST00000405940.6:c.679+50A>G	ENSP00000384375.2:n.679+50A>G
ENST00000417567.1:c.281+50A>G
ENST00000445933.6:c.702+50A>G	ENSP00000394397.2:n.702+50A>G
ENST00000451130.6:c.765+50A>G	ENSP00000394869.2:n.765+50A>G
ENST00000475582.5:n.1876A>G
ENST00000493344.6:c.768+50A>G	ENSP00000429323.1:n.768+50A>G
ENST00000616081.4:c.696+50A>G	ENSP00000477710.1:n.696+50A>G
ENST00000622434.4:c.660+50A>G	ENSP00000479991.1:n.660+50A>G
NM_001034116.1:c.705+50A>G	NP_001029288.1:n.705+50A>G
NM_015636.3:c.702+50A>G	NP_056451.3:n.702+50A>G
NM_172195.3:c.765+50A>G	NP_751945.2:n.765+50A>G
XM_005264632.1:c.660+50A>G	XP_005264689.1:n.660+50A>G
XM_006712132.1:c.657+50A>G	XP_006712195.1:n.657+50A>G
XM_011533147.1:c.87+50A>G	XP_011531449.1:n.87+50A>G
NM_001318965.1:c.768+50A>G	NP_001305894.1:n.768+50A>G
NM_001318966.1:c.660+50A>G	NP_001305895.1:n.660+50A>G
NM_001318967.1:c.612+50A>G	NP_001305896.1:n.612+50A>G
NM_001318968.1:c.120+50A>G	NP_001305897.1:n.120+50A>G
NM_001318969.1:c.87+50A>G	NP_001305898.1:n.87+50A>G
XM_011533147.2:c.87+50A>G	XP_011531449.1:n.87+50A>G
NM_001034116.2:c.705+50A>G MANE Select	NP_001029288.1:n.705+50A>G
NM_001318965.2:c.768+50A>G	NP_001305894.1:n.768+50A>G
NM_001318966.2:c.660+50A>G	NP_001305895.1:n.660+50A>G
NM_001318967.2:c.612+50A>G	NP_001305896.1:n.612+50A>G
NM_001318968.2:c.120+50A>G	NP_001305897.1:n.120+50A>G
NM_001318969.2:c.87+50A>G	NP_001305898.1:n.87+50A>G
NM_015636.4:c.702+50A>G	NP_056451.3:n.702+50A>G
NM_172195.4:c.765+50A>G	NP_751945.2:n.765+50A>G