Canonical Allele Identifier: CA349740321

Gene: CERKL

Linked Data

• MyVariant Identifiers: chr2:g.182423337A>G (hg19) ; chr2:g.181558610A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181558610A>G , CM000664.2:g.181558610A>G	GRCh38
NC_000002.11:g.182423337A>G , CM000664.1:g.182423337A>G	GRCh37
NC_000002.10:g.182131582A>G	NCBI36
NG_021178.1:g.103498T>C
NG_021178.2:g.103498T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684145.1:c.20T>C	ENSP00000508396.1:p.Leu7Pro
ENST00000410087.8:c.776T>C MANE Select	ENSP00000386725.3:p.Leu259Pro
ENST00000339098.9:c.854T>C	ENSP00000341159.5:p.Leu285Pro
ENST00000374967.6:c.712T>C	ENSP00000364106.2:n.712T>C
ENST00000374969.6:c.482-8902T>C	ENSP00000364108.2:n.482-8902T>C
ENST00000374970.6:c.614-8902T>C	ENSP00000364109.2:n.614-8902T>C
ENST00000409440.7:c.722T>C	ENSP00000387080.3:p.Leu241Pro
ENST00000410087.7:c.776T>C	ENSP00000386725.3:p.Leu259Pro
ENST00000421817.5:c.*58T>C	ENSP00000411466.1:n.*58T>C
ENST00000452174.5:c.580T>C	ENSP00000409198.1:n.580T>C
ENST00000479558.5:n.774T>C
ENST00000494398.5:n.776T>C
NM_001030311.2:c.854T>C	NP_001025482.1:p.Leu285Pro
NM_001030312.2:c.482-8902T>C	NP_001025483.1:n.482-8902T>C
NM_001030313.2:c.614-8902T>C	NP_001025484.1:n.614-8902T>C
NM_001160277.1:c.722T>C	NP_001153749.1:p.Leu241Pro
NM_201548.4:c.776T>C	NP_963842.1:p.Leu259Pro
NR_027689.1:n.681T>C
NR_027690.1:n.813T>C
NM_201548.5:c.776T>C MANE Select	NP_963842.1:p.Leu259Pro
NM_001030311.3:c.854T>C	NP_001025482.1:p.Leu285Pro
NM_001030312.3:c.482-8902T>C	NP_001025483.1:n.482-8902T>C
NM_001030313.3:c.614-8902T>C	NP_001025484.1:n.614-8902T>C
NM_001160277.2:c.722T>C	NP_001153749.1:p.Leu241Pro
NR_027689.2:n.679T>C
NR_027690.2:n.811T>C