Canonical Allele Identifier: CA430407793

Gene: CERKL

Linked Data

• MyVariant Identifiers: chr2:g.182423396T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181558669T>G , CM000664.2:g.181558669T>G	GRCh38
NC_000002.11:g.182423396T>G , CM000664.1:g.182423396T>G	GRCh37
NC_000002.10:g.182131641T>G	NCBI36
NG_021178.1:g.103439A>C
NG_021178.2:g.103439A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684145.1:c.-40A>C	ENSP00000508396.1:n.-40A>C
ENST00000410087.8:c.717A>C MANE Select	ENSP00000386725.3:p.Val239=
ENST00000339098.9:c.795A>C	ENSP00000341159.5:p.Val265=
ENST00000374967.6:c.653A>C	ENSP00000364106.2:p.Ter218Ser
ENST00000374969.6:c.482-8961A>C	ENSP00000364108.2:n.482-8961A>C
ENST00000374970.6:c.614-8961A>C	ENSP00000364109.2:n.614-8961A>C
ENST00000409440.7:c.663A>C	ENSP00000387080.3:p.Val221=
ENST00000410087.7:c.717A>C	ENSP00000386725.3:p.Val239=
ENST00000421817.5:c.521A>C	ENSP00000411466.1:p.Ter174Ser
ENST00000452174.5:c.521A>C	ENSP00000409198.1:p.Ter174Ser
ENST00000466715.5:n.533A>C
ENST00000479558.5:n.715A>C
ENST00000494398.5:n.717A>C
NM_001030311.2:c.795A>C	NP_001025482.1:p.Val265=
NM_001030312.2:c.482-8961A>C	NP_001025483.1:n.482-8961A>C
NM_001030313.2:c.614-8961A>C	NP_001025484.1:n.614-8961A>C
NM_001160277.1:c.663A>C	NP_001153749.1:p.Val221=
NM_201548.4:c.717A>C	NP_963842.1:p.Val239=
NR_027689.1:n.622A>C
NR_027690.1:n.754A>C
NM_201548.5:c.717A>C MANE Select	NP_963842.1:p.Val239=
NM_001030311.3:c.795A>C	NP_001025482.1:p.Val265=
NM_001030312.3:c.482-8961A>C	NP_001025483.1:n.482-8961A>C
NM_001030313.3:c.614-8961A>C	NP_001025484.1:n.614-8961A>C
NM_001160277.2:c.663A>C	NP_001153749.1:p.Val221=
NR_027689.2:n.620A>C
NR_027690.2:n.752A>C