Canonical Allele Identifier: CA245158170

Gene: EIF2B1

Linked Data

• dbSNP Id: rs930417910
• gnomAD v3: 12-123630332-T-C
• gnomAD v4: 12-123630332-T-C
• MyVariant Identifiers: chr12:g.124114879T>C (hg19) ; chr12:g.123630332T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123630332T>C , CM000674.2:g.123630332T>C	GRCh38
NC_000012.11:g.124114879T>C , CM000674.1:g.124114879T>C	GRCh37
NC_000012.10:g.122680832T>C	NCBI36
NG_015862.1:g.8445A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000424014.7:c.253-47A>G MANE Select	ENSP00000416250.2:n.253-47A>G
ENST00000424014.6:c.253-47A>G	ENSP00000416250.2:n.253-47A>G
ENST00000452159.6:n.384-47A>G
ENST00000534960.5:c.300-47A>G
ENST00000537073.1:c.253-47A>G	ENSP00000444183.1:n.253-47A>G
ENST00000539951.5:c.214-47A>G	ENSP00000438060.1:n.214-47A>G
ENST00000543940.1:n.353-28A>G
NM_001414.3:c.253-47A>G	NP_001405.1:n.253-47A>G
NM_001414.4:c.253-47A>G MANE Select	NP_001405.1:n.253-47A>G