Canonical Allele Identifier: CA7274995
Gene: EIF2B2 HGNC NCBI

Linked Data

dbSNP Id: rs749427373
ExAC: 14:75472504 T / C
gnomAD v2: 14-75472504-T-C
gnomAD v3: 14-75005801-T-C
gnomAD v4: 14-75005801-T-C
MyVariant Identifiers: chr14:g.75472504T>C (hg19) chr14:g.75005801T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75005801T>C , CM000676.2:g.75005801T>C GRCh38
NC_000014.8:g.75472504T>C , CM000676.1:g.75472504T>C GRCh37
NC_000014.7:g.74542257T>C NCBI36
NG_013333.1:g.7893T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000266126.10:c.598-65T>C MANE Select ENSP00000266126.5:n.598-65T>C
ENST00000266126.9:c.598-65T>C ENSP00000266126.5:n.598-65T>C
ENST00000553401.5:c.571-40T>C ENSP00000451681.1:n.571-40T>C
ENST00000556028.5:c.598-96T>C ENSP00000452311.1:n.598-96T>C
NM_014239.3:c.598-65T>C NP_055054.1:n.598-65T>C
NM_014239.4:c.598-65T>C MANE Select NP_055054.1:n.598-65T>C
Search 100 bp 5'
Search 100 bp 3'