Canonical Allele Identifier: CA349740773

Gene: CERKL

Linked Data

• MyVariant Identifiers: chr2:g.182423383G>A (hg19) ; chr2:g.181558656G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181558656G>A , CM000664.2:g.181558656G>A	GRCh38
NC_000002.11:g.182423383G>A , CM000664.1:g.182423383G>A	GRCh37
NC_000002.10:g.182131628G>A	NCBI36
NG_021178.1:g.103452C>T
NG_021178.2:g.103452C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684145.1:c.-27C>T	ENSP00000508396.1:n.-27C>T
ENST00000410087.8:c.730C>T MANE Select	ENSP00000386725.3:p.Leu244Phe
ENST00000339098.9:c.808C>T	ENSP00000341159.5:p.Leu270Phe
ENST00000374967.6:c.666C>T	ENSP00000364106.2:n.666C>T
ENST00000374969.6:c.482-8948C>T	ENSP00000364108.2:n.482-8948C>T
ENST00000374970.6:c.614-8948C>T	ENSP00000364109.2:n.614-8948C>T
ENST00000409440.7:c.676C>T	ENSP00000387080.3:p.Leu226Phe
ENST00000410087.7:c.730C>T	ENSP00000386725.3:p.Leu244Phe
ENST00000421817.5:c.*12C>T	ENSP00000411466.1:n.*12C>T
ENST00000452174.5:c.534C>T	ENSP00000409198.1:n.534C>T
ENST00000466715.5:n.546C>T
ENST00000479558.5:n.728C>T
ENST00000494398.5:n.730C>T
NM_001030311.2:c.808C>T	NP_001025482.1:p.Leu270Phe
NM_001030312.2:c.482-8948C>T	NP_001025483.1:n.482-8948C>T
NM_001030313.2:c.614-8948C>T	NP_001025484.1:n.614-8948C>T
NM_001160277.1:c.676C>T	NP_001153749.1:p.Leu226Phe
NM_201548.4:c.730C>T	NP_963842.1:p.Leu244Phe
NR_027689.1:n.635C>T
NR_027690.1:n.767C>T
NM_201548.5:c.730C>T MANE Select	NP_963842.1:p.Leu244Phe
NM_001030311.3:c.808C>T	NP_001025482.1:p.Leu270Phe
NM_001030312.3:c.482-8948C>T	NP_001025483.1:n.482-8948C>T
NM_001030313.3:c.614-8948C>T	NP_001025484.1:n.614-8948C>T
NM_001160277.2:c.676C>T	NP_001153749.1:p.Leu226Phe
NR_027689.2:n.633C>T
NR_027690.2:n.765C>T