Canonical Allele Identifier: CA349740305

Gene: CERKL

Linked Data

• MyVariant Identifiers: chr2:g.182423335T>G (hg19) ; chr2:g.181558608T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181558608T>G , CM000664.2:g.181558608T>G	GRCh38
NC_000002.11:g.182423335T>G , CM000664.1:g.182423335T>G	GRCh37
NC_000002.10:g.182131580T>G	NCBI36
NG_021178.1:g.103500A>C
NG_021178.2:g.103500A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684145.1:c.22A>C	ENSP00000508396.1:p.Thr8Pro
ENST00000410087.8:c.778A>C MANE Select	ENSP00000386725.3:p.Thr260Pro
ENST00000339098.9:c.856A>C	ENSP00000341159.5:p.Thr286Pro
ENST00000374967.6:c.714A>C	ENSP00000364106.2:n.714A>C
ENST00000374969.6:c.482-8900A>C	ENSP00000364108.2:n.482-8900A>C
ENST00000374970.6:c.614-8900A>C	ENSP00000364109.2:n.614-8900A>C
ENST00000409440.7:c.724A>C	ENSP00000387080.3:p.Thr242Pro
ENST00000410087.7:c.778A>C	ENSP00000386725.3:p.Thr260Pro
ENST00000421817.5:c.*60A>C	ENSP00000411466.1:n.*60A>C
ENST00000452174.5:c.582A>C	ENSP00000409198.1:n.582A>C
ENST00000479558.5:n.776A>C
ENST00000494398.5:n.778A>C
NM_001030311.2:c.856A>C	NP_001025482.1:p.Thr286Pro
NM_001030312.2:c.482-8900A>C	NP_001025483.1:n.482-8900A>C
NM_001030313.2:c.614-8900A>C	NP_001025484.1:n.614-8900A>C
NM_001160277.1:c.724A>C	NP_001153749.1:p.Thr242Pro
NM_201548.4:c.778A>C	NP_963842.1:p.Thr260Pro
NR_027689.1:n.683A>C
NR_027690.1:n.815A>C
NM_201548.5:c.778A>C MANE Select	NP_963842.1:p.Thr260Pro
NM_001030311.3:c.856A>C	NP_001025482.1:p.Thr286Pro
NM_001030312.3:c.482-8900A>C	NP_001025483.1:n.482-8900A>C
NM_001030313.3:c.614-8900A>C	NP_001025484.1:n.614-8900A>C
NM_001160277.2:c.724A>C	NP_001153749.1:p.Thr242Pro
NR_027689.2:n.681A>C
NR_027690.2:n.813A>C