Canonical Allele Identifier: CA430407730

Gene: CERKL

Linked Data

• ClinVar Variation Id: 1148062
• ClinVar RCV Id: RCV001487790
• dbSNP Id: rs1385839477
• MyVariant Identifiers: chr2:g.182423381A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181558654A>G , CM000664.2:g.181558654A>G	GRCh38
NC_000002.11:g.182423381A>G , CM000664.1:g.182423381A>G	GRCh37
NC_000002.10:g.182131626A>G	NCBI36
NG_021178.1:g.103454T>C
NG_021178.2:g.103454T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684145.1:c.-25T>C	ENSP00000508396.1:n.-25T>C
ENST00000410087.8:c.732T>C MANE Select	ENSP00000386725.3:p.Leu244=
ENST00000339098.9:c.810T>C	ENSP00000341159.5:p.Leu270=
ENST00000374967.6:c.668T>C	ENSP00000364106.2:n.668T>C
ENST00000374969.6:c.482-8946T>C	ENSP00000364108.2:n.482-8946T>C
ENST00000374970.6:c.614-8946T>C	ENSP00000364109.2:n.614-8946T>C
ENST00000409440.7:c.678T>C	ENSP00000387080.3:p.Leu226=
ENST00000410087.7:c.732T>C	ENSP00000386725.3:p.Leu244=
ENST00000421817.5:c.*14T>C	ENSP00000411466.1:n.*14T>C
ENST00000452174.5:c.536T>C	ENSP00000409198.1:n.536T>C
ENST00000466715.5:n.548T>C
ENST00000479558.5:n.730T>C
ENST00000494398.5:n.732T>C
NM_001030311.2:c.810T>C	NP_001025482.1:p.Leu270=
NM_001030312.2:c.482-8946T>C	NP_001025483.1:n.482-8946T>C
NM_001030313.2:c.614-8946T>C	NP_001025484.1:n.614-8946T>C
NM_001160277.1:c.678T>C	NP_001153749.1:p.Leu226=
NM_201548.4:c.732T>C	NP_963842.1:p.Leu244=
NR_027689.1:n.637T>C
NR_027690.1:n.769T>C
NM_201548.5:c.732T>C MANE Select	NP_963842.1:p.Leu244=
NM_001030311.3:c.810T>C	NP_001025482.1:p.Leu270=
NM_001030312.3:c.482-8946T>C	NP_001025483.1:n.482-8946T>C
NM_001030313.3:c.614-8946T>C	NP_001025484.1:n.614-8946T>C
NM_001160277.2:c.678T>C	NP_001153749.1:p.Leu226=
NR_027689.2:n.635T>C
NR_027690.2:n.767T>C