Canonical Allele Identifier: CA349741118

Gene: CERKL

Linked Data

• dbSNP Id: rs1243709117
• gnomAD v4: 2-181558700-C-G
• MyVariant Identifiers: chr2:g.182423427C>G (hg19) ; chr2:g.181558700C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181558700C>G , CM000664.2:g.181558700C>G	GRCh38
NC_000002.11:g.182423427C>G , CM000664.1:g.182423427C>G	GRCh37
NC_000002.10:g.182131672C>G	NCBI36
NG_021178.1:g.103408G>C
NG_021178.2:g.103408G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684145.1:c.-71G>C	ENSP00000508396.1:n.-71G>C
ENST00000410087.8:c.686G>C MANE Select	ENSP00000386725.3:p.Cys229Ser
ENST00000339098.9:c.764G>C	ENSP00000341159.5:p.Cys255Ser
ENST00000374967.6:c.622G>C	ENSP00000364106.2:p.Val208Leu
ENST00000374969.6:c.482-8992G>C	ENSP00000364108.2:n.482-8992G>C
ENST00000374970.6:c.614-8992G>C	ENSP00000364109.2:n.614-8992G>C
ENST00000409440.7:c.632G>C	ENSP00000387080.3:p.Cys211Ser
ENST00000410087.7:c.686G>C	ENSP00000386725.3:p.Cys229Ser
ENST00000421817.5:c.490G>C	ENSP00000411466.1:p.Val164Leu
ENST00000452174.5:c.490G>C	ENSP00000409198.1:p.Val164Leu
ENST00000466715.5:n.502G>C
ENST00000479558.5:n.684G>C
ENST00000494398.5:n.686G>C
NM_001030311.2:c.764G>C	NP_001025482.1:p.Cys255Ser
NM_001030312.2:c.482-8992G>C	NP_001025483.1:n.482-8992G>C
NM_001030313.2:c.614-8992G>C	NP_001025484.1:n.614-8992G>C
NM_001160277.1:c.632G>C	NP_001153749.1:p.Cys211Ser
NM_201548.4:c.686G>C	NP_963842.1:p.Cys229Ser
NR_027689.1:n.591G>C
NR_027690.1:n.723G>C
NM_201548.5:c.686G>C MANE Select	NP_963842.1:p.Cys229Ser
NM_001030311.3:c.764G>C	NP_001025482.1:p.Cys255Ser
NM_001030312.3:c.482-8992G>C	NP_001025483.1:n.482-8992G>C
NM_001030313.3:c.614-8992G>C	NP_001025484.1:n.614-8992G>C
NM_001160277.2:c.632G>C	NP_001153749.1:p.Cys211Ser
NR_027689.2:n.589G>C
NR_027690.2:n.721G>C