Canonical Allele Identifier: CA349740130

Gene: CERKL

Linked Data

• MyVariant Identifiers: chr2:g.182423311G>T (hg19) ; chr2:g.181558584G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181558584G>T , CM000664.2:g.181558584G>T	GRCh38
NC_000002.11:g.182423311G>T , CM000664.1:g.182423311G>T	GRCh37
NC_000002.10:g.182131556G>T	NCBI36
NG_021178.1:g.103524C>A
NG_021178.2:g.103524C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684145.1:c.46C>A	ENSP00000508396.1:p.Leu16Ile
ENST00000410087.8:c.802C>A MANE Select	ENSP00000386725.3:p.Leu268Ile
ENST00000339098.9:c.880C>A	ENSP00000341159.5:p.Leu294Ile
ENST00000374967.6:c.738C>A	ENSP00000364106.2:n.738C>A
ENST00000374969.6:c.482-8876C>A	ENSP00000364108.2:n.482-8876C>A
ENST00000374970.6:c.614-8876C>A	ENSP00000364109.2:n.614-8876C>A
ENST00000409440.7:c.748C>A	ENSP00000387080.3:p.Leu250Ile
ENST00000410087.7:c.802C>A	ENSP00000386725.3:p.Leu268Ile
ENST00000421817.5:c.*84C>A	ENSP00000411466.1:n.*84C>A
ENST00000452174.5:c.606C>A	ENSP00000409198.1:n.606C>A
ENST00000479558.5:n.800C>A
ENST00000494398.5:n.802C>A
NM_001030311.2:c.880C>A	NP_001025482.1:p.Leu294Ile
NM_001030312.2:c.482-8876C>A	NP_001025483.1:n.482-8876C>A
NM_001030313.2:c.614-8876C>A	NP_001025484.1:n.614-8876C>A
NM_001160277.1:c.748C>A	NP_001153749.1:p.Leu250Ile
NM_201548.4:c.802C>A	NP_963842.1:p.Leu268Ile
NR_027689.1:n.707C>A
NR_027690.1:n.839C>A
NM_201548.5:c.802C>A MANE Select	NP_963842.1:p.Leu268Ile
NM_001030311.3:c.880C>A	NP_001025482.1:p.Leu294Ile
NM_001030312.3:c.482-8876C>A	NP_001025483.1:n.482-8876C>A
NM_001030313.3:c.614-8876C>A	NP_001025484.1:n.614-8876C>A
NM_001160277.2:c.748C>A	NP_001153749.1:p.Leu250Ile
NR_027689.2:n.705C>A
NR_027690.2:n.837C>A