Canonical Allele Identifier: CA2010833

Gene: CERKL

Linked Data

• ClinVar Variation Id: 523393
• ClinVar RCV Id: RCV000626729 ; RCV000787562 ; RCV001093154 ; RCV000986950
• dbSNP Id: rs753994107
• ExAC: 2:182468562 A / C
• gnomAD v2: 2-182468562-A-C
• gnomAD v3: 2-181603835-A-C
• gnomAD v4: 2-181603835-A-C
• MyVariant Identifiers: chr2:g.182468562A>C (hg19) ; chr2:g.181603835A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181603835A>C , CM000664.2:g.181603835A>C	GRCh38
NC_000002.11:g.182468562A>C , CM000664.1:g.182468562A>C	GRCh37
NC_000002.10:g.182176807A>C	NCBI36
NG_021178.1:g.58273T>G
NG_021178.2:g.58273T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684145.1:c.-212+2T>G	ENSP00000508396.1:n.-212+2T>G
ENST00000410087.8:c.481+2T>G MANE Select	ENSP00000386725.3:n.481+2T>G
ENST00000339098.9:c.481+2T>G	ENSP00000341159.5:n.481+2T>G
ENST00000374967.6:c.481+2T>G	ENSP00000364106.2:n.481+2T>G
ENST00000374969.6:c.481+2T>G	ENSP00000364108.2:n.481+2T>G
ENST00000374970.6:c.481+2T>G	ENSP00000364109.2:n.481+2T>G
ENST00000409440.7:c.481+2T>G	ENSP00000387080.3:n.481+2T>G
ENST00000410087.7:c.481+2T>G	ENSP00000386725.3:n.481+2T>G
ENST00000421817.5:c.481+2T>G	ENSP00000411466.1:n.481+2T>G
ENST00000452174.5:c.481+2T>G	ENSP00000409198.1:n.481+2T>G
ENST00000460319.5:n.400+2T>G
ENST00000466715.5:n.361+2T>G
ENST00000476070.1:n.380+2T>G
ENST00000479558.5:n.479+2T>G
ENST00000494398.5:n.481+2T>G
NM_001030311.2:c.481+2T>G	NP_001025482.1:n.481+2T>G
NM_001030312.2:c.481+2T>G	NP_001025483.1:n.481+2T>G
NM_001030313.2:c.481+2T>G	NP_001025484.1:n.481+2T>G
NM_001160277.1:c.481+2T>G	NP_001153749.1:n.481+2T>G
NM_201548.4:c.481+2T>G	NP_963842.1:n.481+2T>G
NR_027689.1:n.582+2T>G
NR_027690.1:n.582+2T>G
NM_201548.5:c.481+2T>G MANE Select	NP_963842.1:n.481+2T>G
NM_001030311.3:c.481+2T>G	NP_001025482.1:n.481+2T>G
NM_001030312.3:c.481+2T>G	NP_001025483.1:n.481+2T>G
NM_001030313.3:c.481+2T>G	NP_001025484.1:n.481+2T>G
NM_001160277.2:c.481+2T>G	NP_001153749.1:n.481+2T>G
NR_027689.2:n.580+2T>G
NR_027690.2:n.580+2T>G