Canonical Allele Identifier: CA349740103

Gene: CERKL

Linked Data

• ClinVar Variation Id: 2439920
• ClinVar RCV Id: RCV003144820
• dbSNP Id: rs1341426481
• gnomAD v2: 2-182423305-A-C
• gnomAD v4: 2-181558578-A-C
• MyVariant Identifiers: chr2:g.182423305A>C (hg19) ; chr2:g.181558578A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181558578A>C , CM000664.2:g.181558578A>C	GRCh38
NC_000002.11:g.182423305A>C , CM000664.1:g.182423305A>C	GRCh37
NC_000002.10:g.182131550A>C	NCBI36
NG_021178.1:g.103530T>G
NG_021178.2:g.103530T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684145.1:c.52T>G	ENSP00000508396.1:p.Leu18Val
ENST00000410087.8:c.808T>G MANE Select	ENSP00000386725.3:p.Leu270Val
ENST00000339098.9:c.886T>G	ENSP00000341159.5:p.Leu296Val
ENST00000374967.6:c.744T>G	ENSP00000364106.2:n.744T>G
ENST00000374969.6:c.482-8870T>G	ENSP00000364108.2:n.482-8870T>G
ENST00000374970.6:c.614-8870T>G	ENSP00000364109.2:n.614-8870T>G
ENST00000409440.7:c.754T>G	ENSP00000387080.3:p.Leu252Val
ENST00000410087.7:c.808T>G	ENSP00000386725.3:p.Leu270Val
ENST00000421817.5:c.*90T>G	ENSP00000411466.1:n.*90T>G
ENST00000452174.5:c.612T>G	ENSP00000409198.1:n.612T>G
ENST00000479558.5:n.806T>G
ENST00000494398.5:n.808T>G
NM_001030311.2:c.886T>G	NP_001025482.1:p.Leu296Val
NM_001030312.2:c.482-8870T>G	NP_001025483.1:n.482-8870T>G
NM_001030313.2:c.614-8870T>G	NP_001025484.1:n.614-8870T>G
NM_001160277.1:c.754T>G	NP_001153749.1:p.Leu252Val
NM_201548.4:c.808T>G	NP_963842.1:p.Leu270Val
NR_027689.1:n.713T>G
NR_027690.1:n.845T>G
NM_201548.5:c.808T>G MANE Select	NP_963842.1:p.Leu270Val
NM_001030311.3:c.886T>G	NP_001025482.1:p.Leu296Val
NM_001030312.3:c.482-8870T>G	NP_001025483.1:n.482-8870T>G
NM_001030313.3:c.614-8870T>G	NP_001025484.1:n.614-8870T>G
NM_001160277.2:c.754T>G	NP_001153749.1:p.Leu252Val
NR_027689.2:n.711T>G
NR_027690.2:n.843T>G