Canonical Allele Identifier: CA2010671

Gene: CERKL

Linked Data

• ClinVar Variation Id: 1506522
• ClinVar RCV Id: RCV002036010
• dbSNP Id: rs752573519
• ExAC: 2:182423375 T / A
• gnomAD v2: 2-182423375-T-A
• gnomAD v3: 2-181558648-T-A
• gnomAD v4: 2-181558648-T-A
• MyVariant Identifiers: chr2:g.182423375T>A (hg19) ; chr2:g.181558648T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181558648T>A , CM000664.2:g.181558648T>A	GRCh38
NC_000002.11:g.182423375T>A , CM000664.1:g.182423375T>A	GRCh37
NC_000002.10:g.182131620T>A	NCBI36
NG_021178.1:g.103460A>T
NG_021178.2:g.103460A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684145.1:c.-19A>T	ENSP00000508396.1:n.-19A>T
ENST00000410087.8:c.738A>T MANE Select	ENSP00000386725.3:p.Arg246Ser
ENST00000339098.9:c.816A>T	ENSP00000341159.5:p.Arg272Ser
ENST00000374967.6:c.674A>T	ENSP00000364106.2:n.674A>T
ENST00000374969.6:c.482-8940A>T	ENSP00000364108.2:n.482-8940A>T
ENST00000374970.6:c.614-8940A>T	ENSP00000364109.2:n.614-8940A>T
ENST00000409440.7:c.684A>T	ENSP00000387080.3:p.Arg228Ser
ENST00000410087.7:c.738A>T	ENSP00000386725.3:p.Arg246Ser
ENST00000421817.5:c.*20A>T	ENSP00000411466.1:n.*20A>T
ENST00000452174.5:c.542A>T	ENSP00000409198.1:n.542A>T
ENST00000479558.5:n.736A>T
ENST00000494398.5:n.738A>T
NM_001030311.2:c.816A>T	NP_001025482.1:p.Arg272Ser
NM_001030312.2:c.482-8940A>T	NP_001025483.1:n.482-8940A>T
NM_001030313.2:c.614-8940A>T	NP_001025484.1:n.614-8940A>T
NM_001160277.1:c.684A>T	NP_001153749.1:p.Arg228Ser
NM_201548.4:c.738A>T	NP_963842.1:p.Arg246Ser
NR_027689.1:n.643A>T
NR_027690.1:n.775A>T
NM_201548.5:c.738A>T MANE Select	NP_963842.1:p.Arg246Ser
NM_001030311.3:c.816A>T	NP_001025482.1:p.Arg272Ser
NM_001030312.3:c.482-8940A>T	NP_001025483.1:n.482-8940A>T
NM_001030313.3:c.614-8940A>T	NP_001025484.1:n.614-8940A>T
NM_001160277.2:c.684A>T	NP_001153749.1:p.Arg228Ser
NR_027689.2:n.641A>T
NR_027690.2:n.773A>T