Canonical Allele Identifier: CA349741093

Gene: CERKL

Linked Data

• gnomAD v4: 2-181558695-C-T
• MyVariant Identifiers: chr2:g.182423422C>T (hg19) ; chr2:g.181558695C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181558695C>T , CM000664.2:g.181558695C>T	GRCh38
NC_000002.11:g.182423422C>T , CM000664.1:g.182423422C>T	GRCh37
NC_000002.10:g.182131667C>T	NCBI36
NG_021178.1:g.103413G>A
NG_021178.2:g.103413G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684145.1:c.-66G>A	ENSP00000508396.1:n.-66G>A
ENST00000410087.8:c.691G>A MANE Select	ENSP00000386725.3:p.Gly231Ser
ENST00000339098.9:c.769G>A	ENSP00000341159.5:p.Gly257Ser
ENST00000374967.6:c.627G>A	ENSP00000364106.2:p.Leu209=
ENST00000374969.6:c.482-8987G>A	ENSP00000364108.2:n.482-8987G>A
ENST00000374970.6:c.614-8987G>A	ENSP00000364109.2:n.614-8987G>A
ENST00000409440.7:c.637G>A	ENSP00000387080.3:p.Gly213Ser
ENST00000410087.7:c.691G>A	ENSP00000386725.3:p.Gly231Ser
ENST00000421817.5:c.495G>A	ENSP00000411466.1:p.Leu165=
ENST00000452174.5:c.495G>A	ENSP00000409198.1:p.Leu165=
ENST00000466715.5:n.507G>A
ENST00000479558.5:n.689G>A
ENST00000494398.5:n.691G>A
NM_001030311.2:c.769G>A	NP_001025482.1:p.Gly257Ser
NM_001030312.2:c.482-8987G>A	NP_001025483.1:n.482-8987G>A
NM_001030313.2:c.614-8987G>A	NP_001025484.1:n.614-8987G>A
NM_001160277.1:c.637G>A	NP_001153749.1:p.Gly213Ser
NM_201548.4:c.691G>A	NP_963842.1:p.Gly231Ser
NR_027689.1:n.596G>A
NR_027690.1:n.728G>A
NM_201548.5:c.691G>A MANE Select	NP_963842.1:p.Gly231Ser
NM_001030311.3:c.769G>A	NP_001025482.1:p.Gly257Ser
NM_001030312.3:c.482-8987G>A	NP_001025483.1:n.482-8987G>A
NM_001030313.3:c.614-8987G>A	NP_001025484.1:n.614-8987G>A
NM_001160277.2:c.637G>A	NP_001153749.1:p.Gly213Ser
NR_027689.2:n.594G>A
NR_027690.2:n.726G>A