Canonical Allele Identifier: CA2010663

Gene: CERKL

Linked Data

• ClinVar Variation Id: 897708
• ClinVar RCV Id: RCV001141155 ; RCV001522803 ; RCV001828568
• dbSNP Id: rs77741297
• ExAC: 2:182423330 A / G
• gnomAD v2: 2-182423330-A-G
• gnomAD v3: 2-181558603-A-G
• gnomAD v4: 2-181558603-A-G
• MyVariant Identifiers: chr2:g.182423330A>G (hg19) ; chr2:g.181558603A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181558603A>G , CM000664.2:g.181558603A>G	GRCh38
NC_000002.11:g.182423330A>G , CM000664.1:g.182423330A>G	GRCh37
NC_000002.10:g.182131575A>G	NCBI36
NG_021178.1:g.103505T>C
NG_021178.2:g.103505T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684145.1:c.27T>C	ENSP00000508396.1:p.Pro9=
ENST00000410087.8:c.783T>C MANE Select	ENSP00000386725.3:p.Pro261=
ENST00000339098.9:c.861T>C	ENSP00000341159.5:p.Pro287=
ENST00000374967.6:c.719T>C	ENSP00000364106.2:n.719T>C
ENST00000374969.6:c.482-8895T>C	ENSP00000364108.2:n.482-8895T>C
ENST00000374970.6:c.614-8895T>C	ENSP00000364109.2:n.614-8895T>C
ENST00000409440.7:c.729T>C	ENSP00000387080.3:p.Pro243=
ENST00000410087.7:c.783T>C	ENSP00000386725.3:p.Pro261=
ENST00000421817.5:c.*65T>C	ENSP00000411466.1:n.*65T>C
ENST00000452174.5:c.587T>C	ENSP00000409198.1:n.587T>C
ENST00000479558.5:n.781T>C
ENST00000494398.5:n.783T>C
NM_001030311.2:c.861T>C	NP_001025482.1:p.Pro287=
NM_001030312.2:c.482-8895T>C	NP_001025483.1:n.482-8895T>C
NM_001030313.2:c.614-8895T>C	NP_001025484.1:n.614-8895T>C
NM_001160277.1:c.729T>C	NP_001153749.1:p.Pro243=
NM_201548.4:c.783T>C	NP_963842.1:p.Pro261=
NR_027689.1:n.688T>C
NR_027690.1:n.820T>C
NM_201548.5:c.783T>C MANE Select	NP_963842.1:p.Pro261=
NM_001030311.3:c.861T>C	NP_001025482.1:p.Pro287=
NM_001030312.3:c.482-8895T>C	NP_001025483.1:n.482-8895T>C
NM_001030313.3:c.614-8895T>C	NP_001025484.1:n.614-8895T>C
NM_001160277.2:c.729T>C	NP_001153749.1:p.Pro243=
NR_027689.2:n.686T>C
NR_027690.2:n.818T>C