Canonical Allele Identifier: CA349282628

Gene: CYBRD1

Linked Data

• dbSNP Id: rs1267022134
• gnomAD v2: 2-172411275-G-C
• gnomAD v4: 2-171554765-G-C
• MyVariant Identifiers: chr2:g.172411275G>C (hg19) ; chr2:g.171554765G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.171554765G>C , CM000664.2:g.171554765G>C	GRCh38
NC_000002.11:g.172411275G>C , CM000664.1:g.172411275G>C	GRCh37
NC_000002.10:g.172119521G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321348.9:c.799G>C MANE Select	ENSP00000319141.4:p.Glu267Gln
ENST00000321348.8:c.799G>C	ENSP00000319141.4:p.Glu267Gln
ENST00000375252.3:c.*116G>C	ENSP00000364401.3:n.*116G>C
ENST00000409484.5:c.625G>C	ENSP00000386739.1:p.Glu209Gln
NM_001127383.1:c.*116G>C	NP_001120855.1:n.*116G>C
NM_001256909.1:c.625G>C	NP_001243838.1:p.Glu209Gln
NM_024843.3:c.799G>C	NP_079119.3:p.Glu267Gln
NM_024843.4:c.799G>C MANE Select	NP_079119.3:p.Glu267Gln
NM_001127383.2:c.*116G>C	NP_001120855.1:n.*116G>C
NM_001256909.2:c.625G>C	NP_001243838.1:p.Glu209Gln