Canonical Allele Identifier: CA349282232

Gene: CYBRD1

Linked Data

• MyVariant Identifiers: chr2:g.172411182C>G (hg19) ; chr2:g.171554672C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.171554672C>G , CM000664.2:g.171554672C>G	GRCh38
NC_000002.11:g.172411182C>G , CM000664.1:g.172411182C>G	GRCh37
NC_000002.10:g.172119428C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000321348.9:c.706C>G MANE Select	ENSP00000319141.4:p.His236Asp
ENST00000321348.8:c.706C>G	ENSP00000319141.4:p.His236Asp
ENST00000375252.3:c.*23C>G	ENSP00000364401.3:n.*23C>G
ENST00000409484.5:c.532C>G	ENSP00000386739.1:p.His178Asp
NM_001127383.1:c.*23C>G	NP_001120855.1:n.*23C>G
NM_001256909.1:c.532C>G	NP_001243838.1:p.His178Asp
NM_024843.3:c.706C>G	NP_079119.3:p.His236Asp
NM_024843.4:c.706C>G MANE Select	NP_079119.3:p.His236Asp
NM_001127383.2:c.*23C>G	NP_001120855.1:n.*23C>G
NM_001256909.2:c.532C>G	NP_001243838.1:p.His178Asp