Canonical Allele Identifier: CA349740932

Gene: CERKL

Linked Data

• gnomAD v4: 2-181558674-C-A
• MyVariant Identifiers: chr2:g.182423401C>A (hg19) ; chr2:g.181558674C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181558674C>A , CM000664.2:g.181558674C>A	GRCh38
NC_000002.11:g.182423401C>A , CM000664.1:g.182423401C>A	GRCh37
NC_000002.10:g.182131646C>A	NCBI36
NG_021178.1:g.103434G>T
NG_021178.2:g.103434G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684145.1:c.-45G>T	ENSP00000508396.1:n.-45G>T
ENST00000410087.8:c.712G>T MANE Select	ENSP00000386725.3:p.Glu238Ter
ENST00000339098.9:c.790G>T	ENSP00000341159.5:p.Glu264Ter
ENST00000374967.6:c.648G>T	ENSP00000364106.2:p.Ala216=
ENST00000374969.6:c.482-8966G>T	ENSP00000364108.2:n.482-8966G>T
ENST00000374970.6:c.614-8966G>T	ENSP00000364109.2:n.614-8966G>T
ENST00000409440.7:c.658G>T	ENSP00000387080.3:p.Glu220Ter
ENST00000410087.7:c.712G>T	ENSP00000386725.3:p.Glu238Ter
ENST00000421817.5:c.516G>T	ENSP00000411466.1:p.Ala172=
ENST00000452174.5:c.516G>T	ENSP00000409198.1:p.Ala172=
ENST00000466715.5:n.528G>T
ENST00000479558.5:n.710G>T
ENST00000494398.5:n.712G>T
NM_001030311.2:c.790G>T	NP_001025482.1:p.Glu264Ter
NM_001030312.2:c.482-8966G>T	NP_001025483.1:n.482-8966G>T
NM_001030313.2:c.614-8966G>T	NP_001025484.1:n.614-8966G>T
NM_001160277.1:c.658G>T	NP_001153749.1:p.Glu220Ter
NM_201548.4:c.712G>T	NP_963842.1:p.Glu238Ter
NR_027689.1:n.617G>T
NR_027690.1:n.749G>T
NM_201548.5:c.712G>T MANE Select	NP_963842.1:p.Glu238Ter
NM_001030311.3:c.790G>T	NP_001025482.1:p.Glu264Ter
NM_001030312.3:c.482-8966G>T	NP_001025483.1:n.482-8966G>T
NM_001030313.3:c.614-8966G>T	NP_001025484.1:n.614-8966G>T
NM_001160277.2:c.658G>T	NP_001153749.1:p.Glu220Ter
NR_027689.2:n.615G>T
NR_027690.2:n.747G>T