Canonical Allele Identifier: CA2010584

Gene: CERKL

Linked Data

• ClinVar Variation Id: 333006
• ClinVar RCV Id: RCV000285254 ; RCV001509950
• dbSNP Id: rs186100602
• ExAC: 2:182413396 A / G
• gnomAD v2: 2-182413396-A-G
• gnomAD v3: 2-181548669-A-G
• gnomAD v4: 2-181548669-A-G
• MyVariant Identifiers: chr2:g.182413396A>G (hg19) ; chr2:g.181548669A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181548669A>G , CM000664.2:g.181548669A>G	GRCh38
NC_000002.11:g.182413396A>G , CM000664.1:g.182413396A>G	GRCh37
NC_000002.10:g.182121641A>G	NCBI36
NG_021178.1:g.113439T>C
NG_021178.2:g.113439T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684145.1:c.317+11T>C	ENSP00000508396.1:n.317+11T>C
ENST00000410087.8:c.1073+11T>C MANE Select	ENSP00000386725.3:n.1073+11T>C
ENST00000339098.9:c.1151+11T>C	ENSP00000341159.5:n.1151+11T>C
ENST00000374967.6:c.1009+11T>C	ENSP00000364106.2:n.1009+11T>C
ENST00000374969.6:c.734+11T>C	ENSP00000364108.2:n.734+11T>C
ENST00000374970.6:c.866+11T>C	ENSP00000364109.2:n.866+11T>C
ENST00000409440.7:c.1019+11T>C	ENSP00000387080.3:n.1019+11T>C
ENST00000410087.7:c.1073+11T>C	ENSP00000386725.3:n.1073+11T>C
ENST00000421817.5:c.*355+11T>C	ENSP00000411466.1:n.*355+11T>C
ENST00000452174.5:c.877+11T>C	ENSP00000409198.1:n.877+11T>C
ENST00000479558.5:n.1071+11T>C
ENST00000494398.5:n.1073+11T>C
NM_001030311.2:c.1151+11T>C	NP_001025482.1:n.1151+11T>C
NM_001030312.2:c.734+11T>C	NP_001025483.1:n.734+11T>C
NM_001030313.2:c.866+11T>C	NP_001025484.1:n.866+11T>C
NM_001160277.1:c.1019+11T>C	NP_001153749.1:n.1019+11T>C
NM_201548.4:c.1073+11T>C	NP_963842.1:n.1073+11T>C
NR_027689.1:n.978+11T>C
NR_027690.1:n.1110+11T>C
NM_201548.5:c.1073+11T>C MANE Select	NP_963842.1:n.1073+11T>C
NM_001030311.3:c.1151+11T>C	NP_001025482.1:n.1151+11T>C
NM_001030312.3:c.734+11T>C	NP_001025483.1:n.734+11T>C
NM_001030313.3:c.866+11T>C	NP_001025484.1:n.866+11T>C
NM_001160277.2:c.1019+11T>C	NP_001153749.1:n.1019+11T>C
NR_027689.2:n.976+11T>C
NR_027690.2:n.1108+11T>C