Canonical Allele Identifier: CA349740495

Gene: CERKL

Linked Data

• MyVariant Identifiers: chr2:g.182423353C>G (hg19) ; chr2:g.181558626C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181558626C>G , CM000664.2:g.181558626C>G	GRCh38
NC_000002.11:g.182423353C>G , CM000664.1:g.182423353C>G	GRCh37
NC_000002.10:g.182131598C>G	NCBI36
NG_021178.1:g.103482G>C
NG_021178.2:g.103482G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684145.1:c.4G>C	ENSP00000508396.1:p.Glu2Gln
ENST00000410087.8:c.760G>C MANE Select	ENSP00000386725.3:p.Glu254Gln
ENST00000339098.9:c.838G>C	ENSP00000341159.5:p.Glu280Gln
ENST00000374967.6:c.696G>C	ENSP00000364106.2:n.696G>C
ENST00000374969.6:c.482-8918G>C	ENSP00000364108.2:n.482-8918G>C
ENST00000374970.6:c.614-8918G>C	ENSP00000364109.2:n.614-8918G>C
ENST00000409440.7:c.706G>C	ENSP00000387080.3:p.Glu236Gln
ENST00000410087.7:c.760G>C	ENSP00000386725.3:p.Glu254Gln
ENST00000421817.5:c.*42G>C	ENSP00000411466.1:n.*42G>C
ENST00000452174.5:c.564G>C	ENSP00000409198.1:n.564G>C
ENST00000479558.5:n.758G>C
ENST00000494398.5:n.760G>C
NM_001030311.2:c.838G>C	NP_001025482.1:p.Glu280Gln
NM_001030312.2:c.482-8918G>C	NP_001025483.1:n.482-8918G>C
NM_001030313.2:c.614-8918G>C	NP_001025484.1:n.614-8918G>C
NM_001160277.1:c.706G>C	NP_001153749.1:p.Glu236Gln
NM_201548.4:c.760G>C	NP_963842.1:p.Glu254Gln
NR_027689.1:n.665G>C
NR_027690.1:n.797G>C
NM_201548.5:c.760G>C MANE Select	NP_963842.1:p.Glu254Gln
NM_001030311.3:c.838G>C	NP_001025482.1:p.Glu280Gln
NM_001030312.3:c.482-8918G>C	NP_001025483.1:n.482-8918G>C
NM_001030313.3:c.614-8918G>C	NP_001025484.1:n.614-8918G>C
NM_001160277.2:c.706G>C	NP_001153749.1:p.Glu236Gln
NR_027689.2:n.663G>C
NR_027690.2:n.795G>C