Canonical Allele Identifier: CA349740482

Gene: CERKL

Linked Data

• MyVariant Identifiers: chr2:g.182423352T>A (hg19) ; chr2:g.181558625T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181558625T>A , CM000664.2:g.181558625T>A	GRCh38
NC_000002.11:g.182423352T>A , CM000664.1:g.182423352T>A	GRCh37
NC_000002.10:g.182131597T>A	NCBI36
NG_021178.1:g.103483A>T
NG_021178.2:g.103483A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684145.1:c.5A>T	ENSP00000508396.1:p.Glu2Val
ENST00000410087.8:c.761A>T MANE Select	ENSP00000386725.3:p.Glu254Val
ENST00000339098.9:c.839A>T	ENSP00000341159.5:p.Glu280Val
ENST00000374967.6:c.697A>T	ENSP00000364106.2:n.697A>T
ENST00000374969.6:c.482-8917A>T	ENSP00000364108.2:n.482-8917A>T
ENST00000374970.6:c.614-8917A>T	ENSP00000364109.2:n.614-8917A>T
ENST00000409440.7:c.707A>T	ENSP00000387080.3:p.Glu236Val
ENST00000410087.7:c.761A>T	ENSP00000386725.3:p.Glu254Val
ENST00000421817.5:c.*43A>T	ENSP00000411466.1:n.*43A>T
ENST00000452174.5:c.565A>T	ENSP00000409198.1:n.565A>T
ENST00000479558.5:n.759A>T
ENST00000494398.5:n.761A>T
NM_001030311.2:c.839A>T	NP_001025482.1:p.Glu280Val
NM_001030312.2:c.482-8917A>T	NP_001025483.1:n.482-8917A>T
NM_001030313.2:c.614-8917A>T	NP_001025484.1:n.614-8917A>T
NM_001160277.1:c.707A>T	NP_001153749.1:p.Glu236Val
NM_201548.4:c.761A>T	NP_963842.1:p.Glu254Val
NR_027689.1:n.666A>T
NR_027690.1:n.798A>T
NM_201548.5:c.761A>T MANE Select	NP_963842.1:p.Glu254Val
NM_001030311.3:c.839A>T	NP_001025482.1:p.Glu280Val
NM_001030312.3:c.482-8917A>T	NP_001025483.1:n.482-8917A>T
NM_001030313.3:c.614-8917A>T	NP_001025484.1:n.614-8917A>T
NM_001160277.2:c.707A>T	NP_001153749.1:p.Glu236Val
NR_027689.2:n.664A>T
NR_027690.2:n.796A>T