Canonical Allele Identifier: CA349282215

Gene: CYBRD1

Linked Data

• MyVariant Identifiers: chr2:g.172411177T>G (hg19) ; chr2:g.171554667T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.171554667T>G , CM000664.2:g.171554667T>G	GRCh38
NC_000002.11:g.172411177T>G , CM000664.1:g.172411177T>G	GRCh37
NC_000002.10:g.172119423T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321348.9:c.701T>G MANE Select	ENSP00000319141.4:p.Ile234Ser
ENST00000321348.8:c.701T>G	ENSP00000319141.4:p.Ile234Ser
ENST00000375252.3:c.*18T>G	ENSP00000364401.3:n.*18T>G
ENST00000409484.5:c.527T>G	ENSP00000386739.1:p.Ile176Ser
NM_001127383.1:c.*18T>G	NP_001120855.1:n.*18T>G
NM_001256909.1:c.527T>G	NP_001243838.1:p.Ile176Ser
NM_024843.3:c.701T>G	NP_079119.3:p.Ile234Ser
NM_024843.4:c.701T>G MANE Select	NP_079119.3:p.Ile234Ser
NM_001127383.2:c.*18T>G	NP_001120855.1:n.*18T>G
NM_001256909.2:c.527T>G	NP_001243838.1:p.Ile176Ser