Canonical Allele Identifier: CA608088054

Gene: EIF2B1

Linked Data

• dbSNP Id: rs1198512956
• gnomAD v2: 12-124114861-C-A
• MyVariant Identifiers: chr12:g.124114861C>A (hg19) ; chr12:g.123630314C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123630314C>A , CM000674.2:g.123630314C>A	GRCh38
NC_000012.11:g.124114861C>A , CM000674.1:g.124114861C>A	GRCh37
NC_000012.10:g.122680814C>A	NCBI36
NG_015862.1:g.8463G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000424014.7:c.253-29G>T MANE Select	ENSP00000416250.2:n.253-29G>T
ENST00000424014.6:c.253-29G>T	ENSP00000416250.2:n.253-29G>T
ENST00000452159.6:n.384-29G>T
ENST00000534960.5:c.300-29G>T
ENST00000537073.1:c.253-29G>T	ENSP00000444183.1:n.253-29G>T
ENST00000539951.5:c.214-29G>T	ENSP00000438060.1:n.214-29G>T
ENST00000543940.1:n.353-10G>T
NM_001414.3:c.253-29G>T	NP_001405.1:n.253-29G>T
NM_001414.4:c.253-29G>T MANE Select	NP_001405.1:n.253-29G>T