Canonical Allele Identifier: CA7275001

Gene: EIF2B2

Linked Data

• dbSNP Id: rs759197453
• ExAC: 14:75472529 C / T
• gnomAD v2: 14-75472529-C-T
• gnomAD v4: 14-75005826-C-T
• MyVariant Identifiers: chr14:g.75472529C>T (hg19) ; chr14:g.75005826C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75005826C>T , CM000676.2:g.75005826C>T	GRCh38
NC_000014.8:g.75472529C>T , CM000676.1:g.75472529C>T	GRCh37
NC_000014.7:g.74542282C>T	NCBI36
NG_013333.1:g.7918C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000266126.10:c.598-40C>T MANE Select	ENSP00000266126.5:n.598-40C>T
ENST00000266126.9:c.598-40C>T	ENSP00000266126.5:n.598-40C>T
ENST00000553401.5:c.571-15C>T	ENSP00000451681.1:n.571-15C>T
ENST00000556028.5:c.598-71C>T	ENSP00000452311.1:n.598-71C>T
NM_014239.3:c.598-40C>T	NP_055054.1:n.598-40C>T
NM_014239.4:c.598-40C>T MANE Select	NP_055054.1:n.598-40C>T