Canonical Allele Identifier: CA349740190

Gene: CERKL

Linked Data

• MyVariant Identifiers: chr2:g.182423322G>C (hg19) ; chr2:g.181558595G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181558595G>C , CM000664.2:g.181558595G>C	GRCh38
NC_000002.11:g.182423322G>C , CM000664.1:g.182423322G>C	GRCh37
NC_000002.10:g.182131567G>C	NCBI36
NG_021178.1:g.103513C>G
NG_021178.2:g.103513C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684145.1:c.35C>G	ENSP00000508396.1:p.Ala12Gly
ENST00000410087.8:c.791C>G MANE Select	ENSP00000386725.3:p.Ala264Gly
ENST00000339098.9:c.869C>G	ENSP00000341159.5:p.Ala290Gly
ENST00000374967.6:c.727C>G	ENSP00000364106.2:n.727C>G
ENST00000374969.6:c.482-8887C>G	ENSP00000364108.2:n.482-8887C>G
ENST00000374970.6:c.614-8887C>G	ENSP00000364109.2:n.614-8887C>G
ENST00000409440.7:c.737C>G	ENSP00000387080.3:p.Ala246Gly
ENST00000410087.7:c.791C>G	ENSP00000386725.3:p.Ala264Gly
ENST00000421817.5:c.*73C>G	ENSP00000411466.1:n.*73C>G
ENST00000452174.5:c.595C>G	ENSP00000409198.1:n.595C>G
ENST00000479558.5:n.789C>G
ENST00000494398.5:n.791C>G
NM_001030311.2:c.869C>G	NP_001025482.1:p.Ala290Gly
NM_001030312.2:c.482-8887C>G	NP_001025483.1:n.482-8887C>G
NM_001030313.2:c.614-8887C>G	NP_001025484.1:n.614-8887C>G
NM_001160277.1:c.737C>G	NP_001153749.1:p.Ala246Gly
NM_201548.4:c.791C>G	NP_963842.1:p.Ala264Gly
NR_027689.1:n.696C>G
NR_027690.1:n.828C>G
NM_201548.5:c.791C>G MANE Select	NP_963842.1:p.Ala264Gly
NM_001030311.3:c.869C>G	NP_001025482.1:p.Ala290Gly
NM_001030312.3:c.482-8887C>G	NP_001025483.1:n.482-8887C>G
NM_001030313.3:c.614-8887C>G	NP_001025484.1:n.614-8887C>G
NM_001160277.2:c.737C>G	NP_001153749.1:p.Ala246Gly
NR_027689.2:n.694C>G
NR_027690.2:n.826C>G