Canonical Allele Identifier: CA2010765

Gene: CERKL

Linked Data

• dbSNP Id: rs529801228
• ExAC: 2:182438430 C / T
• gnomAD v2: 2-182438430-C-T
• gnomAD v3: 2-181573703-C-T
• gnomAD v4: 2-181573703-C-T
• MyVariant Identifiers: chr2:g.182438430C>T (hg19) ; chr2:g.181573703C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181573703C>T , CM000664.2:g.181573703C>T	GRCh38
NC_000002.11:g.182438430C>T , CM000664.1:g.182438430C>T	GRCh37
NC_000002.10:g.182146675C>T	NCBI36
NG_021178.1:g.88405G>A
NG_021178.2:g.88405G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684145.1:c.-80+50G>A	ENSP00000508396.1:n.-80+50G>A
ENST00000410087.8:c.613+50G>A MANE Select	ENSP00000386725.3:n.613+50G>A
ENST00000339098.9:c.613+50G>A	ENSP00000341159.5:n.613+50G>A
ENST00000374967.6:c.613+50G>A	ENSP00000364106.2:n.613+50G>A
ENST00000374969.6:c.482-23995G>A	ENSP00000364108.2:n.482-23995G>A
ENST00000374970.6:c.613+50G>A	ENSP00000364109.2:n.613+50G>A
ENST00000409440.7:c.482-7582G>A	ENSP00000387080.3:n.482-7582G>A
ENST00000410087.7:c.613+50G>A	ENSP00000386725.3:n.613+50G>A
ENST00000421817.5:c.482-14995G>A	ENSP00000411466.1:n.482-14995G>A
ENST00000452174.5:c.482-14995G>A	ENSP00000409198.1:n.482-14995G>A
ENST00000460319.5:n.532+50G>A
ENST00000466715.5:n.493+50G>A
ENST00000476070.1:n.512+50G>A
ENST00000479558.5:n.611+50G>A
ENST00000494398.5:n.613+50G>A
NM_001030311.2:c.613+50G>A	NP_001025482.1:n.613+50G>A
NM_001030312.2:c.482-23995G>A	NP_001025483.1:n.482-23995G>A
NM_001030313.2:c.613+50G>A	NP_001025484.1:n.613+50G>A
NM_001160277.1:c.482-7582G>A	NP_001153749.1:n.482-7582G>A
NM_201548.4:c.613+50G>A	NP_963842.1:n.613+50G>A
NR_027689.1:n.583-14995G>A
NR_027690.1:n.714+50G>A
NM_201548.5:c.613+50G>A MANE Select	NP_963842.1:n.613+50G>A
NM_001030311.3:c.613+50G>A	NP_001025482.1:n.613+50G>A
NM_001030312.3:c.482-23995G>A	NP_001025483.1:n.482-23995G>A
NM_001030313.3:c.613+50G>A	NP_001025484.1:n.613+50G>A
NM_001160277.2:c.482-7582G>A	NP_001153749.1:n.482-7582G>A
NR_027689.2:n.581-14995G>A
NR_027690.2:n.712+50G>A