Canonical Allele Identifier: CA2010664

Gene: CERKL

Linked Data

• ClinVar Variation Id: 1967640
• ClinVar RCV Id: RCV002726899
• dbSNP Id: rs765537516
• ExAC: 2:182423331 G / C
• MyVariant Identifiers: chr2:g.182423331G>C (hg19) ; chr2:g.181558604G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181558604G>C , CM000664.2:g.181558604G>C	GRCh38
NC_000002.11:g.182423331G>C , CM000664.1:g.182423331G>C	GRCh37
NC_000002.10:g.182131576G>C	NCBI36
NG_021178.1:g.103504C>G
NG_021178.2:g.103504C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684145.1:c.26C>G	ENSP00000508396.1:p.Pro9Arg
ENST00000410087.8:c.782C>G MANE Select	ENSP00000386725.3:p.Pro261Arg
ENST00000339098.9:c.860C>G	ENSP00000341159.5:p.Pro287Arg
ENST00000374967.6:c.718C>G	ENSP00000364106.2:n.718C>G
ENST00000374969.6:c.482-8896C>G	ENSP00000364108.2:n.482-8896C>G
ENST00000374970.6:c.614-8896C>G	ENSP00000364109.2:n.614-8896C>G
ENST00000409440.7:c.728C>G	ENSP00000387080.3:p.Pro243Arg
ENST00000410087.7:c.782C>G	ENSP00000386725.3:p.Pro261Arg
ENST00000421817.5:c.*64C>G	ENSP00000411466.1:n.*64C>G
ENST00000452174.5:c.586C>G	ENSP00000409198.1:n.586C>G
ENST00000479558.5:n.780C>G
ENST00000494398.5:n.782C>G
NM_001030311.2:c.860C>G	NP_001025482.1:p.Pro287Arg
NM_001030312.2:c.482-8896C>G	NP_001025483.1:n.482-8896C>G
NM_001030313.2:c.614-8896C>G	NP_001025484.1:n.614-8896C>G
NM_001160277.1:c.728C>G	NP_001153749.1:p.Pro243Arg
NM_201548.4:c.782C>G	NP_963842.1:p.Pro261Arg
NR_027689.1:n.687C>G
NR_027690.1:n.819C>G
NM_201548.5:c.782C>G MANE Select	NP_963842.1:p.Pro261Arg
NM_001030311.3:c.860C>G	NP_001025482.1:p.Pro287Arg
NM_001030312.3:c.482-8896C>G	NP_001025483.1:n.482-8896C>G
NM_001030313.3:c.614-8896C>G	NP_001025484.1:n.614-8896C>G
NM_001160277.2:c.728C>G	NP_001153749.1:p.Pro243Arg
NR_027689.2:n.685C>G
NR_027690.2:n.817C>G