Canonical Allele Identifier: CA2010661

Gene: CERKL

Linked Data

• ClinVar Variation Id: 1627523
• ClinVar RCV Id: RCV002132940
• dbSNP Id: rs769105750
• ExAC: 2:182423315 A / G
• gnomAD v2: 2-182423315-A-G
• gnomAD v4: 2-181558588-A-G
• MyVariant Identifiers: chr2:g.182423315A>G (hg19) ; chr2:g.181558588A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181558588A>G , CM000664.2:g.181558588A>G	GRCh38
NC_000002.11:g.182423315A>G , CM000664.1:g.182423315A>G	GRCh37
NC_000002.10:g.182131560A>G	NCBI36
NG_021178.1:g.103520T>C
NG_021178.2:g.103520T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684145.1:c.42T>C	ENSP00000508396.1:p.Leu14=
ENST00000410087.8:c.798T>C MANE Select	ENSP00000386725.3:p.Leu266=
ENST00000339098.9:c.876T>C	ENSP00000341159.5:p.Leu292=
ENST00000374967.6:c.734T>C	ENSP00000364106.2:n.734T>C
ENST00000374969.6:c.482-8880T>C	ENSP00000364108.2:n.482-8880T>C
ENST00000374970.6:c.614-8880T>C	ENSP00000364109.2:n.614-8880T>C
ENST00000409440.7:c.744T>C	ENSP00000387080.3:p.Leu248=
ENST00000410087.7:c.798T>C	ENSP00000386725.3:p.Leu266=
ENST00000421817.5:c.*80T>C	ENSP00000411466.1:n.*80T>C
ENST00000452174.5:c.602T>C	ENSP00000409198.1:n.602T>C
ENST00000479558.5:n.796T>C
ENST00000494398.5:n.798T>C
NM_001030311.2:c.876T>C	NP_001025482.1:p.Leu292=
NM_001030312.2:c.482-8880T>C	NP_001025483.1:n.482-8880T>C
NM_001030313.2:c.614-8880T>C	NP_001025484.1:n.614-8880T>C
NM_001160277.1:c.744T>C	NP_001153749.1:p.Leu248=
NM_201548.4:c.798T>C	NP_963842.1:p.Leu266=
NR_027689.1:n.703T>C
NR_027690.1:n.835T>C
NM_201548.5:c.798T>C MANE Select	NP_963842.1:p.Leu266=
NM_001030311.3:c.876T>C	NP_001025482.1:p.Leu292=
NM_001030312.3:c.482-8880T>C	NP_001025483.1:n.482-8880T>C
NM_001030313.3:c.614-8880T>C	NP_001025484.1:n.614-8880T>C
NM_001160277.2:c.744T>C	NP_001153749.1:p.Leu248=
NR_027689.2:n.701T>C
NR_027690.2:n.833T>C