Canonical Allele Identifier: CA349740164

Gene: CERKL

Linked Data

• ClinVar Variation Id: 1452597
• ClinVar RCV Id: RCV002037695
• dbSNP Id: rs1269787346
• gnomAD v2: 2-182423320-G-A
• gnomAD v4: 2-181558593-G-A
• MyVariant Identifiers: chr2:g.182423320G>A (hg19) ; chr2:g.181558593G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181558593G>A , CM000664.2:g.181558593G>A	GRCh38
NC_000002.11:g.182423320G>A , CM000664.1:g.182423320G>A	GRCh37
NC_000002.10:g.182131565G>A	NCBI36
NG_021178.1:g.103515C>T
NG_021178.2:g.103515C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684145.1:c.37C>T	ENSP00000508396.1:p.Gln13Ter
ENST00000410087.8:c.793C>T MANE Select	ENSP00000386725.3:p.Gln265Ter
ENST00000339098.9:c.871C>T	ENSP00000341159.5:p.Gln291Ter
ENST00000374967.6:c.729C>T	ENSP00000364106.2:n.729C>T
ENST00000374969.6:c.482-8885C>T	ENSP00000364108.2:n.482-8885C>T
ENST00000374970.6:c.614-8885C>T	ENSP00000364109.2:n.614-8885C>T
ENST00000409440.7:c.739C>T	ENSP00000387080.3:p.Gln247Ter
ENST00000410087.7:c.793C>T	ENSP00000386725.3:p.Gln265Ter
ENST00000421817.5:c.*75C>T	ENSP00000411466.1:n.*75C>T
ENST00000452174.5:c.597C>T	ENSP00000409198.1:n.597C>T
ENST00000479558.5:n.791C>T
ENST00000494398.5:n.793C>T
NM_001030311.2:c.871C>T	NP_001025482.1:p.Gln291Ter
NM_001030312.2:c.482-8885C>T	NP_001025483.1:n.482-8885C>T
NM_001030313.2:c.614-8885C>T	NP_001025484.1:n.614-8885C>T
NM_001160277.1:c.739C>T	NP_001153749.1:p.Gln247Ter
NM_201548.4:c.793C>T	NP_963842.1:p.Gln265Ter
NR_027689.1:n.698C>T
NR_027690.1:n.830C>T
NM_201548.5:c.793C>T MANE Select	NP_963842.1:p.Gln265Ter
NM_001030311.3:c.871C>T	NP_001025482.1:p.Gln291Ter
NM_001030312.3:c.482-8885C>T	NP_001025483.1:n.482-8885C>T
NM_001030313.3:c.614-8885C>T	NP_001025484.1:n.614-8885C>T
NM_001160277.2:c.739C>T	NP_001153749.1:p.Gln247Ter
NR_027689.2:n.696C>T
NR_027690.2:n.828C>T