Canonical Allele Identifier: CA430407703

Gene: CERKL

Linked Data

• ClinVar Variation Id: 1146573
• ClinVar RCV Id: RCV001485864
• dbSNP Id: rs2105820154
• gnomAD v4: 2-181558633-A-G
• MyVariant Identifiers: chr2:g.182423360A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181558633A>G , CM000664.2:g.181558633A>G	GRCh38
NC_000002.11:g.182423360A>G , CM000664.1:g.182423360A>G	GRCh37
NC_000002.10:g.182131605A>G	NCBI36
NG_021178.1:g.103475T>C
NG_021178.2:g.103475T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684145.1:c.-4T>C	ENSP00000508396.1:n.-4T>C
ENST00000410087.8:c.753T>C MANE Select	ENSP00000386725.3:p.Ala251=
ENST00000339098.9:c.831T>C	ENSP00000341159.5:p.Ala277=
ENST00000374967.6:c.689T>C	ENSP00000364106.2:n.689T>C
ENST00000374969.6:c.482-8925T>C	ENSP00000364108.2:n.482-8925T>C
ENST00000374970.6:c.614-8925T>C	ENSP00000364109.2:n.614-8925T>C
ENST00000409440.7:c.699T>C	ENSP00000387080.3:p.Ala233=
ENST00000410087.7:c.753T>C	ENSP00000386725.3:p.Ala251=
ENST00000421817.5:c.*35T>C	ENSP00000411466.1:n.*35T>C
ENST00000452174.5:c.557T>C	ENSP00000409198.1:n.557T>C
ENST00000479558.5:n.751T>C
ENST00000494398.5:n.753T>C
NM_001030311.2:c.831T>C	NP_001025482.1:p.Ala277=
NM_001030312.2:c.482-8925T>C	NP_001025483.1:n.482-8925T>C
NM_001030313.2:c.614-8925T>C	NP_001025484.1:n.614-8925T>C
NM_001160277.1:c.699T>C	NP_001153749.1:p.Ala233=
NM_201548.4:c.753T>C	NP_963842.1:p.Ala251=
NR_027689.1:n.658T>C
NR_027690.1:n.790T>C
NM_201548.5:c.753T>C MANE Select	NP_963842.1:p.Ala251=
NM_001030311.3:c.831T>C	NP_001025482.1:p.Ala277=
NM_001030312.3:c.482-8925T>C	NP_001025483.1:n.482-8925T>C
NM_001030313.3:c.614-8925T>C	NP_001025484.1:n.614-8925T>C
NM_001160277.2:c.699T>C	NP_001153749.1:p.Ala233=
NR_027689.2:n.656T>C
NR_027690.2:n.788T>C