Canonical Allele Identifier: CA390430088
Gene: EIF2B2 HGNC NCBI

Linked Data

dbSNP Id: rs1308081108
gnomAD v2: 14-75475755-G-C
gnomAD v4: 14-75009052-G-C
MyVariant Identifiers: chr14:g.75475755G>C (hg19) chr14:g.75009052G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75009052G>C , CM000676.2:g.75009052G>C GRCh38
NC_000014.8:g.75475755G>C , CM000676.1:g.75475755G>C GRCh37
NC_000014.7:g.74545508G>C NCBI36
NG_013333.1:g.11144G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000266126.10:c.920G>C MANE Select ENSP00000266126.5:p.Ser307Thr
ENST00000266126.9:c.920G>C ENSP00000266126.5:p.Ser307Thr
ENST00000556668.1:n.500G>C
NM_014239.3:c.920G>C NP_055054.1:p.Ser307Thr
NM_014239.4:c.920G>C MANE Select NP_055054.1:p.Ser307Thr
Search 100 bp 5'
Search 100 bp 3'