Canonical Allele Identifier: CA349741090

Gene: CERKL

Linked Data

• ClinVar Variation Id: 2813457
• ClinVar RCV Id: RCV003678012
• gnomAD v4: 2-181558695-C-G
• MyVariant Identifiers: chr2:g.182423422C>G (hg19) ; chr2:g.181558695C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181558695C>G , CM000664.2:g.181558695C>G	GRCh38
NC_000002.11:g.182423422C>G , CM000664.1:g.182423422C>G	GRCh37
NC_000002.10:g.182131667C>G	NCBI36
NG_021178.1:g.103413G>C
NG_021178.2:g.103413G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684145.1:c.-66G>C	ENSP00000508396.1:n.-66G>C
ENST00000410087.8:c.691G>C MANE Select	ENSP00000386725.3:p.Gly231Arg
ENST00000339098.9:c.769G>C	ENSP00000341159.5:p.Gly257Arg
ENST00000374967.6:c.627G>C	ENSP00000364106.2:p.Leu209Phe
ENST00000374969.6:c.482-8987G>C	ENSP00000364108.2:n.482-8987G>C
ENST00000374970.6:c.614-8987G>C	ENSP00000364109.2:n.614-8987G>C
ENST00000409440.7:c.637G>C	ENSP00000387080.3:p.Gly213Arg
ENST00000410087.7:c.691G>C	ENSP00000386725.3:p.Gly231Arg
ENST00000421817.5:c.495G>C	ENSP00000411466.1:p.Leu165Phe
ENST00000452174.5:c.495G>C	ENSP00000409198.1:p.Leu165Phe
ENST00000466715.5:n.507G>C
ENST00000479558.5:n.689G>C
ENST00000494398.5:n.691G>C
NM_001030311.2:c.769G>C	NP_001025482.1:p.Gly257Arg
NM_001030312.2:c.482-8987G>C	NP_001025483.1:n.482-8987G>C
NM_001030313.2:c.614-8987G>C	NP_001025484.1:n.614-8987G>C
NM_001160277.1:c.637G>C	NP_001153749.1:p.Gly213Arg
NM_201548.4:c.691G>C	NP_963842.1:p.Gly231Arg
NR_027689.1:n.596G>C
NR_027690.1:n.728G>C
NM_201548.5:c.691G>C MANE Select	NP_963842.1:p.Gly231Arg
NM_001030311.3:c.769G>C	NP_001025482.1:p.Gly257Arg
NM_001030312.3:c.482-8987G>C	NP_001025483.1:n.482-8987G>C
NM_001030313.3:c.614-8987G>C	NP_001025484.1:n.614-8987G>C
NM_001160277.2:c.637G>C	NP_001153749.1:p.Gly213Arg
NR_027689.2:n.594G>C
NR_027690.2:n.726G>C