Canonical Allele Identifier: CA390424222

Gene: EIF2B2

Linked Data

• dbSNP Id: rs1889574450
• gnomAD v4: 14-75003551-A-C
• MyVariant Identifiers: chr14:g.75470254A>C (hg19) ; chr14:g.75003551A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75003551A>C , CM000676.2:g.75003551A>C	GRCh38
NC_000014.8:g.75470254A>C , CM000676.1:g.75470254A>C	GRCh37
NC_000014.7:g.74540007A>C	NCBI36
NG_013333.1:g.5643A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266126.10:c.285A>C MANE Select	ENSP00000266126.5:p.Arg95Ser
ENST00000266126.9:c.285A>C	ENSP00000266126.5:p.Arg95Ser
ENST00000553401.5:c.258A>C	ENSP00000451681.1:p.Arg86Ser
ENST00000553539.1:n.580A>C
ENST00000555522.1:n.343A>C
ENST00000556028.5:c.285A>C	ENSP00000452311.1:p.Arg95Ser
NM_014239.3:c.285A>C	NP_055054.1:p.Arg95Ser
NM_014239.4:c.285A>C MANE Select	NP_055054.1:p.Arg95Ser