Canonical Allele Identifier: CA349740513

Gene: CERKL

Linked Data

• MyVariant Identifiers: chr2:g.182423355A>T (hg19) ; chr2:g.181558628A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181558628A>T , CM000664.2:g.181558628A>T	GRCh38
NC_000002.11:g.182423355A>T , CM000664.1:g.182423355A>T	GRCh37
NC_000002.10:g.182131600A>T	NCBI36
NG_021178.1:g.103480T>A
NG_021178.2:g.103480T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684145.1:c.2T>A	ENSP00000508396.1:p.Met1Lys
ENST00000410087.8:c.758T>A MANE Select	ENSP00000386725.3:p.Met253Lys
ENST00000339098.9:c.836T>A	ENSP00000341159.5:p.Met279Lys
ENST00000374967.6:c.694T>A	ENSP00000364106.2:n.694T>A
ENST00000374969.6:c.482-8920T>A	ENSP00000364108.2:n.482-8920T>A
ENST00000374970.6:c.614-8920T>A	ENSP00000364109.2:n.614-8920T>A
ENST00000409440.7:c.704T>A	ENSP00000387080.3:p.Met235Lys
ENST00000410087.7:c.758T>A	ENSP00000386725.3:p.Met253Lys
ENST00000421817.5:c.*40T>A	ENSP00000411466.1:n.*40T>A
ENST00000452174.5:c.562T>A	ENSP00000409198.1:n.562T>A
ENST00000479558.5:n.756T>A
ENST00000494398.5:n.758T>A
NM_001030311.2:c.836T>A	NP_001025482.1:p.Met279Lys
NM_001030312.2:c.482-8920T>A	NP_001025483.1:n.482-8920T>A
NM_001030313.2:c.614-8920T>A	NP_001025484.1:n.614-8920T>A
NM_001160277.1:c.704T>A	NP_001153749.1:p.Met235Lys
NM_201548.4:c.758T>A	NP_963842.1:p.Met253Lys
NR_027689.1:n.663T>A
NR_027690.1:n.795T>A
NM_201548.5:c.758T>A MANE Select	NP_963842.1:p.Met253Lys
NM_001030311.3:c.836T>A	NP_001025482.1:p.Met279Lys
NM_001030312.3:c.482-8920T>A	NP_001025483.1:n.482-8920T>A
NM_001030313.3:c.614-8920T>A	NP_001025484.1:n.614-8920T>A
NM_001160277.2:c.704T>A	NP_001153749.1:p.Met235Lys
NR_027689.2:n.661T>A
NR_027690.2:n.793T>A