Canonical Allele Identifier: CA430407640

Gene: CERKL

Linked Data

• ClinVar Variation Id: 1595969
• ClinVar RCV Id: RCV002117243
• dbSNP Id: rs2105820031
• MyVariant Identifiers: chr2:g.182423321T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181558594T>C , CM000664.2:g.181558594T>C	GRCh38
NC_000002.11:g.182423321T>C , CM000664.1:g.182423321T>C	GRCh37
NC_000002.10:g.182131566T>C	NCBI36
NG_021178.1:g.103514A>G
NG_021178.2:g.103514A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684145.1:c.36A>G	ENSP00000508396.1:p.Ala12=
ENST00000410087.8:c.792A>G MANE Select	ENSP00000386725.3:p.Ala264=
ENST00000339098.9:c.870A>G	ENSP00000341159.5:p.Ala290=
ENST00000374967.6:c.728A>G	ENSP00000364106.2:n.728A>G
ENST00000374969.6:c.482-8886A>G	ENSP00000364108.2:n.482-8886A>G
ENST00000374970.6:c.614-8886A>G	ENSP00000364109.2:n.614-8886A>G
ENST00000409440.7:c.738A>G	ENSP00000387080.3:p.Ala246=
ENST00000410087.7:c.792A>G	ENSP00000386725.3:p.Ala264=
ENST00000421817.5:c.*74A>G	ENSP00000411466.1:n.*74A>G
ENST00000452174.5:c.596A>G	ENSP00000409198.1:n.596A>G
ENST00000479558.5:n.790A>G
ENST00000494398.5:n.792A>G
NM_001030311.2:c.870A>G	NP_001025482.1:p.Ala290=
NM_001030312.2:c.482-8886A>G	NP_001025483.1:n.482-8886A>G
NM_001030313.2:c.614-8886A>G	NP_001025484.1:n.614-8886A>G
NM_001160277.1:c.738A>G	NP_001153749.1:p.Ala246=
NM_201548.4:c.792A>G	NP_963842.1:p.Ala264=
NR_027689.1:n.697A>G
NR_027690.1:n.829A>G
NM_201548.5:c.792A>G MANE Select	NP_963842.1:p.Ala264=
NM_001030311.3:c.870A>G	NP_001025482.1:p.Ala290=
NM_001030312.3:c.482-8886A>G	NP_001025483.1:n.482-8886A>G
NM_001030313.3:c.614-8886A>G	NP_001025484.1:n.614-8886A>G
NM_001160277.2:c.738A>G	NP_001153749.1:p.Ala246=
NR_027689.2:n.695A>G
NR_027690.2:n.827A>G