Canonical Allele Identifier: CA349740317

Gene: CERKL

Linked Data

• gnomAD v4: 2-181558610-A-C
• MyVariant Identifiers: chr2:g.182423337A>C (hg19) ; chr2:g.181558610A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181558610A>C , CM000664.2:g.181558610A>C	GRCh38
NC_000002.11:g.182423337A>C , CM000664.1:g.182423337A>C	GRCh37
NC_000002.10:g.182131582A>C	NCBI36
NG_021178.1:g.103498T>G
NG_021178.2:g.103498T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684145.1:c.20T>G	ENSP00000508396.1:p.Leu7Arg
ENST00000410087.8:c.776T>G MANE Select	ENSP00000386725.3:p.Leu259Arg
ENST00000339098.9:c.854T>G	ENSP00000341159.5:p.Leu285Arg
ENST00000374967.6:c.712T>G	ENSP00000364106.2:n.712T>G
ENST00000374969.6:c.482-8902T>G	ENSP00000364108.2:n.482-8902T>G
ENST00000374970.6:c.614-8902T>G	ENSP00000364109.2:n.614-8902T>G
ENST00000409440.7:c.722T>G	ENSP00000387080.3:p.Leu241Arg
ENST00000410087.7:c.776T>G	ENSP00000386725.3:p.Leu259Arg
ENST00000421817.5:c.*58T>G	ENSP00000411466.1:n.*58T>G
ENST00000452174.5:c.580T>G	ENSP00000409198.1:n.580T>G
ENST00000479558.5:n.774T>G
ENST00000494398.5:n.776T>G
NM_001030311.2:c.854T>G	NP_001025482.1:p.Leu285Arg
NM_001030312.2:c.482-8902T>G	NP_001025483.1:n.482-8902T>G
NM_001030313.2:c.614-8902T>G	NP_001025484.1:n.614-8902T>G
NM_001160277.1:c.722T>G	NP_001153749.1:p.Leu241Arg
NM_201548.4:c.776T>G	NP_963842.1:p.Leu259Arg
NR_027689.1:n.681T>G
NR_027690.1:n.813T>G
NM_201548.5:c.776T>G MANE Select	NP_963842.1:p.Leu259Arg
NM_001030311.3:c.854T>G	NP_001025482.1:p.Leu285Arg
NM_001030312.3:c.482-8902T>G	NP_001025483.1:n.482-8902T>G
NM_001030313.3:c.614-8902T>G	NP_001025484.1:n.614-8902T>G
NM_001160277.2:c.722T>G	NP_001153749.1:p.Leu241Arg
NR_027689.2:n.679T>G
NR_027690.2:n.811T>G