Canonical Allele Identifier: CA349741006

Gene: CERKL

Linked Data

• dbSNP Id: rs1360026076
• gnomAD v2: 2-182423409-G-C
• gnomAD v4: 2-181558682-G-C
• MyVariant Identifiers: chr2:g.182423409G>C (hg19) ; chr2:g.181558682G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181558682G>C , CM000664.2:g.181558682G>C	GRCh38
NC_000002.11:g.182423409G>C , CM000664.1:g.182423409G>C	GRCh37
NC_000002.10:g.182131654G>C	NCBI36
NG_021178.1:g.103426C>G
NG_021178.2:g.103426C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684145.1:c.-53C>G	ENSP00000508396.1:n.-53C>G
ENST00000410087.8:c.704C>G MANE Select	ENSP00000386725.3:p.Ser235Cys
ENST00000339098.9:c.782C>G	ENSP00000341159.5:p.Ser261Cys
ENST00000374967.6:c.640C>G	ENSP00000364106.2:p.Leu214Val
ENST00000374969.6:c.482-8974C>G	ENSP00000364108.2:n.482-8974C>G
ENST00000374970.6:c.614-8974C>G	ENSP00000364109.2:n.614-8974C>G
ENST00000409440.7:c.650C>G	ENSP00000387080.3:p.Ser217Cys
ENST00000410087.7:c.704C>G	ENSP00000386725.3:p.Ser235Cys
ENST00000421817.5:c.508C>G	ENSP00000411466.1:p.Leu170Val
ENST00000452174.5:c.508C>G	ENSP00000409198.1:p.Leu170Val
ENST00000466715.5:n.520C>G
ENST00000479558.5:n.702C>G
ENST00000494398.5:n.704C>G
NM_001030311.2:c.782C>G	NP_001025482.1:p.Ser261Cys
NM_001030312.2:c.482-8974C>G	NP_001025483.1:n.482-8974C>G
NM_001030313.2:c.614-8974C>G	NP_001025484.1:n.614-8974C>G
NM_001160277.1:c.650C>G	NP_001153749.1:p.Ser217Cys
NM_201548.4:c.704C>G	NP_963842.1:p.Ser235Cys
NR_027689.1:n.609C>G
NR_027690.1:n.741C>G
NM_201548.5:c.704C>G MANE Select	NP_963842.1:p.Ser235Cys
NM_001030311.3:c.782C>G	NP_001025482.1:p.Ser261Cys
NM_001030312.3:c.482-8974C>G	NP_001025483.1:n.482-8974C>G
NM_001030313.3:c.614-8974C>G	NP_001025484.1:n.614-8974C>G
NM_001160277.2:c.650C>G	NP_001153749.1:p.Ser217Cys
NR_027689.2:n.607C>G
NR_027690.2:n.739C>G