Canonical Allele Identifier: CA349741131

Gene: CERKL

Linked Data

• gnomAD v4: 2-181558703-A-G
• MyVariant Identifiers: chr2:g.182423430A>G (hg19) ; chr2:g.181558703A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181558703A>G , CM000664.2:g.181558703A>G	GRCh38
NC_000002.11:g.182423430A>G , CM000664.1:g.182423430A>G	GRCh37
NC_000002.10:g.182131675A>G	NCBI36
NG_021178.1:g.103405T>C
NG_021178.2:g.103405T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684145.1:c.-74T>C	ENSP00000508396.1:n.-74T>C
ENST00000410087.8:c.683T>C MANE Select	ENSP00000386725.3:p.Val228Ala
ENST00000339098.9:c.761T>C	ENSP00000341159.5:p.Val254Ala
ENST00000374967.6:c.619T>C	ENSP00000364106.2:p.Ser207Pro
ENST00000374969.6:c.482-8995T>C	ENSP00000364108.2:n.482-8995T>C
ENST00000374970.6:c.614-8995T>C	ENSP00000364109.2:n.614-8995T>C
ENST00000409440.7:c.629T>C	ENSP00000387080.3:p.Val210Ala
ENST00000410087.7:c.683T>C	ENSP00000386725.3:p.Val228Ala
ENST00000421817.5:c.487T>C	ENSP00000411466.1:p.Ser163Pro
ENST00000452174.5:c.487T>C	ENSP00000409198.1:p.Ser163Pro
ENST00000466715.5:n.499T>C
ENST00000479558.5:n.681T>C
ENST00000494398.5:n.683T>C
NM_001030311.2:c.761T>C	NP_001025482.1:p.Val254Ala
NM_001030312.2:c.482-8995T>C	NP_001025483.1:n.482-8995T>C
NM_001030313.2:c.614-8995T>C	NP_001025484.1:n.614-8995T>C
NM_001160277.1:c.629T>C	NP_001153749.1:p.Val210Ala
NM_201548.4:c.683T>C	NP_963842.1:p.Val228Ala
NR_027689.1:n.588T>C
NR_027690.1:n.720T>C
NM_201548.5:c.683T>C MANE Select	NP_963842.1:p.Val228Ala
NM_001030311.3:c.761T>C	NP_001025482.1:p.Val254Ala
NM_001030312.3:c.482-8995T>C	NP_001025483.1:n.482-8995T>C
NM_001030313.3:c.614-8995T>C	NP_001025484.1:n.614-8995T>C
NM_001160277.2:c.629T>C	NP_001153749.1:p.Val210Ala
NR_027689.2:n.586T>C
NR_027690.2:n.718T>C