Canonical Allele Identifier: CA349282618
Gene: CYBRD1 HGNC NCBI

Linked Data

dbSNP Id: rs10455
gnomAD v4: 2-171554763-G-C
MyVariant Identifiers: chr2:g.172411273G>C (hg19) chr2:g.171554763G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.171554763G>C , CM000664.2:g.171554763G>C GRCh38
NC_000002.11:g.172411273G>C , CM000664.1:g.172411273G>C GRCh37
NC_000002.10:g.172119519G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000321348.9:c.797G>C MANE Select ENSP00000319141.4:p.Ser266Thr
ENST00000321348.8:c.797G>C ENSP00000319141.4:p.Ser266Thr
ENST00000375252.3:c.*114G>C ENSP00000364401.3:n.*114G>C
ENST00000409484.5:c.623G>C ENSP00000386739.1:p.Ser208Thr
NM_001127383.1:c.*114G>C NP_001120855.1:n.*114G>C
NM_001256909.1:c.623G>C NP_001243838.1:p.Ser208Thr
NM_024843.3:c.797G>C NP_079119.3:p.Ser266Thr
NM_024843.4:c.797G>C MANE Select NP_079119.3:p.Ser266Thr
NM_001127383.2:c.*114G>C NP_001120855.1:n.*114G>C
NM_001256909.2:c.623G>C NP_001243838.1:p.Ser208Thr
Search 100 bp 5'
Search 100 bp 3'