Canonical Allele Identifier: CA61590116

Gene: CERKL

Linked Data

• ClinVar Variation Id: 636008
• ClinVar RCV Id: RCV000787563
• dbSNP Id: rs78484040
• gnomAD v3: 2-181558692-C-T
• gnomAD v4: 2-181558692-C-T
• COSMIC: COSM4910892 ; COSM4910893
• MyVariant Identifiers: chr2:g.182423419C>T (hg19) ; chr2:g.181558692C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181558692C>T , CM000664.2:g.181558692C>T	GRCh38
NC_000002.11:g.182423419C>T , CM000664.1:g.182423419C>T	GRCh37
NC_000002.10:g.182131664C>T	NCBI36
NG_021178.1:g.103416G>A
NG_021178.2:g.103416G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684145.1:c.-63G>A	ENSP00000508396.1:n.-63G>A
ENST00000410087.8:c.694G>A MANE Select	ENSP00000386725.3:p.Gly232Arg
ENST00000339098.9:c.772G>A	ENSP00000341159.5:p.Gly258Arg
ENST00000374967.6:c.630G>A	ENSP00000364106.2:p.Val210=
ENST00000374969.6:c.482-8984G>A	ENSP00000364108.2:n.482-8984G>A
ENST00000374970.6:c.614-8984G>A	ENSP00000364109.2:n.614-8984G>A
ENST00000409440.7:c.640G>A	ENSP00000387080.3:p.Gly214Arg
ENST00000410087.7:c.694G>A	ENSP00000386725.3:p.Gly232Arg
ENST00000421817.5:c.498G>A	ENSP00000411466.1:p.Val166=
ENST00000452174.5:c.498G>A	ENSP00000409198.1:p.Val166=
ENST00000466715.5:n.510G>A
ENST00000479558.5:n.692G>A
ENST00000494398.5:n.694G>A
NM_001030311.2:c.772G>A	NP_001025482.1:p.Gly258Arg
NM_001030312.2:c.482-8984G>A	NP_001025483.1:n.482-8984G>A
NM_001030313.2:c.614-8984G>A	NP_001025484.1:n.614-8984G>A
NM_001160277.1:c.640G>A	NP_001153749.1:p.Gly214Arg
NM_201548.4:c.694G>A	NP_963842.1:p.Gly232Arg
NR_027689.1:n.599G>A
NR_027690.1:n.731G>A
NM_201548.5:c.694G>A MANE Select	NP_963842.1:p.Gly232Arg
NM_001030311.3:c.772G>A	NP_001025482.1:p.Gly258Arg
NM_001030312.3:c.482-8984G>A	NP_001025483.1:n.482-8984G>A
NM_001030313.3:c.614-8984G>A	NP_001025484.1:n.614-8984G>A
NM_001160277.2:c.640G>A	NP_001153749.1:p.Gly214Arg
NR_027689.2:n.597G>A
NR_027690.2:n.729G>A