Canonical Allele Identifier: CA658796090

Gene: CERKL

Linked Data

• ClinVar Variation Id: 523394
• ClinVar RCV Id: RCV000626730 ; RCV001199233
• dbSNP Id: rs1553515435
• gnomAD v4: 2-181566055-T-C
• MyVariant Identifiers: chr2:g.182430782T>C (hg19) ; chr2:g.181566055T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181566055T>C , CM000664.2:g.181566055T>C	GRCh38
NC_000002.11:g.182430782T>C , CM000664.1:g.182430782T>C	GRCh37
NC_000002.10:g.182139027T>C	NCBI36
NG_021178.1:g.96053A>G
NG_021178.2:g.96053A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684145.1:c.-79-7347A>G	ENSP00000508396.1:n.-79-7347A>G
ENST00000410087.8:c.677+3A>G MANE Select	ENSP00000386725.3:n.677+3A>G
ENST00000339098.9:c.677+3A>G	ENSP00000341159.5:n.677+3A>G
ENST00000374967.6:c.614-7347A>G	ENSP00000364106.2:n.614-7347A>G
ENST00000374969.6:c.482-16347A>G	ENSP00000364108.2:n.482-16347A>G
ENST00000374970.6:c.613+7698A>G	ENSP00000364109.2:n.613+7698A>G
ENST00000409440.7:c.545+3A>G	ENSP00000387080.3:n.545+3A>G
ENST00000410087.7:c.677+3A>G	ENSP00000386725.3:n.677+3A>G
ENST00000421817.5:c.482-7347A>G	ENSP00000411466.1:n.482-7347A>G
ENST00000452174.5:c.482-7347A>G	ENSP00000409198.1:n.482-7347A>G
ENST00000466715.5:n.494-7347A>G
ENST00000479558.5:n.675+3A>G
ENST00000494398.5:n.677+3A>G
NM_001030311.2:c.677+3A>G	NP_001025482.1:n.677+3A>G
NM_001030312.2:c.482-16347A>G	NP_001025483.1:n.482-16347A>G
NM_001030313.2:c.613+7698A>G	NP_001025484.1:n.613+7698A>G
NM_001160277.1:c.545+3A>G	NP_001153749.1:n.545+3A>G
NM_201548.4:c.677+3A>G	NP_963842.1:n.677+3A>G
NR_027689.1:n.583-7347A>G
NR_027690.1:n.715-7347A>G
NM_201548.5:c.677+3A>G MANE Select	NP_963842.1:n.677+3A>G
NM_001030311.3:c.677+3A>G	NP_001025482.1:n.677+3A>G
NM_001030312.3:c.482-16347A>G	NP_001025483.1:n.482-16347A>G
NM_001030313.3:c.613+7698A>G	NP_001025484.1:n.613+7698A>G
NM_001160277.2:c.545+3A>G	NP_001153749.1:n.545+3A>G
NR_027689.2:n.581-7347A>G
NR_027690.2:n.713-7347A>G