Canonical Allele Identifier: CA349740359

Gene: CERKL

Linked Data

• MyVariant Identifiers: chr2:g.182423338G>C (hg19) ; chr2:g.181558611G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181558611G>C , CM000664.2:g.181558611G>C	GRCh38
NC_000002.11:g.182423338G>C , CM000664.1:g.182423338G>C	GRCh37
NC_000002.10:g.182131583G>C	NCBI36
NG_021178.1:g.103497C>G
NG_021178.2:g.103497C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684145.1:c.19C>G	ENSP00000508396.1:p.Leu7Val
ENST00000410087.8:c.775C>G MANE Select	ENSP00000386725.3:p.Leu259Val
ENST00000339098.9:c.853C>G	ENSP00000341159.5:p.Leu285Val
ENST00000374967.6:c.711C>G	ENSP00000364106.2:n.711C>G
ENST00000374969.6:c.482-8903C>G	ENSP00000364108.2:n.482-8903C>G
ENST00000374970.6:c.614-8903C>G	ENSP00000364109.2:n.614-8903C>G
ENST00000409440.7:c.721C>G	ENSP00000387080.3:p.Leu241Val
ENST00000410087.7:c.775C>G	ENSP00000386725.3:p.Leu259Val
ENST00000421817.5:c.*57C>G	ENSP00000411466.1:n.*57C>G
ENST00000452174.5:c.579C>G	ENSP00000409198.1:n.579C>G
ENST00000479558.5:n.773C>G
ENST00000494398.5:n.775C>G
NM_001030311.2:c.853C>G	NP_001025482.1:p.Leu285Val
NM_001030312.2:c.482-8903C>G	NP_001025483.1:n.482-8903C>G
NM_001030313.2:c.614-8903C>G	NP_001025484.1:n.614-8903C>G
NM_001160277.1:c.721C>G	NP_001153749.1:p.Leu241Val
NM_201548.4:c.775C>G	NP_963842.1:p.Leu259Val
NR_027689.1:n.680C>G
NR_027690.1:n.812C>G
NM_201548.5:c.775C>G MANE Select	NP_963842.1:p.Leu259Val
NM_001030311.3:c.853C>G	NP_001025482.1:p.Leu285Val
NM_001030312.3:c.482-8903C>G	NP_001025483.1:n.482-8903C>G
NM_001030313.3:c.614-8903C>G	NP_001025484.1:n.614-8903C>G
NM_001160277.2:c.721C>G	NP_001153749.1:p.Leu241Val
NR_027689.2:n.678C>G
NR_027690.2:n.810C>G