Canonical Allele Identifier: CA608088149

Gene: EIF2B1

Linked Data

• dbSNP Id: rs1454509582
• gnomAD v2: 12-124114869-A-G
• gnomAD v4: 12-123630322-A-G
• MyVariant Identifiers: chr12:g.124114869A>G (hg19) ; chr12:g.123630322A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123630322A>G , CM000674.2:g.123630322A>G	GRCh38
NC_000012.11:g.124114869A>G , CM000674.1:g.124114869A>G	GRCh37
NC_000012.10:g.122680822A>G	NCBI36
NG_015862.1:g.8455T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000424014.7:c.253-37T>C MANE Select	ENSP00000416250.2:n.253-37T>C
ENST00000424014.6:c.253-37T>C	ENSP00000416250.2:n.253-37T>C
ENST00000452159.6:n.384-37T>C
ENST00000534960.5:c.300-37T>C
ENST00000537073.1:c.253-37T>C	ENSP00000444183.1:n.253-37T>C
ENST00000539951.5:c.214-37T>C	ENSP00000438060.1:n.214-37T>C
ENST00000543940.1:n.353-18T>C
NM_001414.3:c.253-37T>C	NP_001405.1:n.253-37T>C
NM_001414.4:c.253-37T>C MANE Select	NP_001405.1:n.253-37T>C