Canonical Allele Identifier: CA430407614
Gene: CERKL HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.182423303T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.181558576T>C , CM000664.2:g.181558576T>C GRCh38
NC_000002.11:g.182423303T>C , CM000664.1:g.182423303T>C GRCh37
NC_000002.10:g.182131548T>C NCBI36
NG_021178.1:g.103532A>G
NG_021178.2:g.103532A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684145.1:c.54A>G ENSP00000508396.1:p.Leu18=
ENST00000410087.8:c.810A>G MANE Select ENSP00000386725.3:p.Leu270=
ENST00000339098.9:c.888A>G ENSP00000341159.5:p.Leu296=
ENST00000374967.6:c.746A>G ENSP00000364106.2:n.746A>G
ENST00000374969.6:c.482-8868A>G ENSP00000364108.2:n.482-8868A>G
ENST00000374970.6:c.614-8868A>G ENSP00000364109.2:n.614-8868A>G
ENST00000409440.7:c.756A>G ENSP00000387080.3:p.Leu252=
ENST00000410087.7:c.810A>G ENSP00000386725.3:p.Leu270=
ENST00000421817.5:c.*92A>G ENSP00000411466.1:n.*92A>G
ENST00000452174.5:c.614A>G ENSP00000409198.1:n.614A>G
ENST00000479558.5:n.808A>G
ENST00000494398.5:n.810A>G
NM_001030311.2:c.888A>G NP_001025482.1:p.Leu296=
NM_001030312.2:c.482-8868A>G NP_001025483.1:n.482-8868A>G
NM_001030313.2:c.614-8868A>G NP_001025484.1:n.614-8868A>G
NM_001160277.1:c.756A>G NP_001153749.1:p.Leu252=
NM_201548.4:c.810A>G NP_963842.1:p.Leu270=
NR_027689.1:n.715A>G
NR_027690.1:n.847A>G
NM_201548.5:c.810A>G MANE Select NP_963842.1:p.Leu270=
NM_001030311.3:c.888A>G NP_001025482.1:p.Leu296=
NM_001030312.3:c.482-8868A>G NP_001025483.1:n.482-8868A>G
NM_001030313.3:c.614-8868A>G NP_001025484.1:n.614-8868A>G
NM_001160277.2:c.756A>G NP_001153749.1:p.Leu252=
NR_027689.2:n.713A>G
NR_027690.2:n.845A>G