Canonical Allele Identifier: CA2010566

Gene: CERKL

Linked Data

• ClinVar Variation Id: 423197
• ClinVar RCV Id: RCV000483805 ; RCV001828508 ; RCV003889907
• dbSNP Id: rs746220721
• ExAC: 2:182413278 T / G
• gnomAD v2: 2-182413278-T-G
• gnomAD v3: 2-181548551-T-G
• gnomAD v4: 2-181548551-T-G
• MyVariant Identifiers: chr2:g.182413278T>G (hg19) ; chr2:g.181548551T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181548551T>G , CM000664.2:g.181548551T>G	GRCh38
NC_000002.11:g.182413278T>G , CM000664.1:g.182413278T>G	GRCh37
NC_000002.10:g.182121523T>G	NCBI36
NG_021178.1:g.113557A>C
NG_021178.2:g.113557A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684145.1:c.371A>C	ENSP00000508396.1:p.Gln124Pro
ENST00000410087.8:c.1127A>C MANE Select	ENSP00000386725.3:p.Gln376Pro
ENST00000339098.9:c.1205A>C	ENSP00000341159.5:p.Gln402Pro
ENST00000374967.6:c.1063A>C	ENSP00000364106.2:n.1063A>C
ENST00000374969.6:c.788A>C	ENSP00000364108.2:p.Gln263Pro
ENST00000374970.6:c.920A>C	ENSP00000364109.2:p.Gln307Pro
ENST00000409440.7:c.1073A>C	ENSP00000387080.3:p.Gln358Pro
ENST00000410087.7:c.1127A>C	ENSP00000386725.3:p.Gln376Pro
ENST00000421817.5:c.*409A>C	ENSP00000411466.1:n.*409A>C
ENST00000452174.5:c.931A>C	ENSP00000409198.1:n.931A>C
ENST00000479558.5:n.1125A>C
ENST00000494398.5:n.1127A>C
NM_001030311.2:c.1205A>C	NP_001025482.1:p.Gln402Pro
NM_001030312.2:c.788A>C	NP_001025483.1:p.Gln263Pro
NM_001030313.2:c.920A>C	NP_001025484.1:p.Gln307Pro
NM_001160277.1:c.1073A>C	NP_001153749.1:p.Gln358Pro
NM_201548.4:c.1127A>C	NP_963842.1:p.Gln376Pro
NR_027689.1:n.1032A>C
NR_027690.1:n.1164A>C
NM_201548.5:c.1127A>C MANE Select	NP_963842.1:p.Gln376Pro
NM_001030311.3:c.1205A>C	NP_001025482.1:p.Gln402Pro
NM_001030312.3:c.788A>C	NP_001025483.1:p.Gln263Pro
NM_001030313.3:c.920A>C	NP_001025484.1:p.Gln307Pro
NM_001160277.2:c.1073A>C	NP_001153749.1:p.Gln358Pro
NR_027689.2:n.1030A>C
NR_027690.2:n.1162A>C