Canonical Allele Identifier: CA349740874

Gene: CERKL

Linked Data

• gnomAD v4: 2-181558665-G-C
• MyVariant Identifiers: chr2:g.182423392G>C (hg19) ; chr2:g.181558665G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181558665G>C , CM000664.2:g.181558665G>C	GRCh38
NC_000002.11:g.182423392G>C , CM000664.1:g.182423392G>C	GRCh37
NC_000002.10:g.182131637G>C	NCBI36
NG_021178.1:g.103443C>G
NG_021178.2:g.103443C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684145.1:c.-36C>G	ENSP00000508396.1:n.-36C>G
ENST00000410087.8:c.721C>G MANE Select	ENSP00000386725.3:p.His241Asp
ENST00000339098.9:c.799C>G	ENSP00000341159.5:p.His267Asp
ENST00000374967.6:c.657C>G	ENSP00000364106.2:n.657C>G
ENST00000374969.6:c.482-8957C>G	ENSP00000364108.2:n.482-8957C>G
ENST00000374970.6:c.614-8957C>G	ENSP00000364109.2:n.614-8957C>G
ENST00000409440.7:c.667C>G	ENSP00000387080.3:p.His223Asp
ENST00000410087.7:c.721C>G	ENSP00000386725.3:p.His241Asp
ENST00000421817.5:c.*3C>G	ENSP00000411466.1:n.*3C>G
ENST00000452174.5:c.525C>G	ENSP00000409198.1:n.525C>G
ENST00000466715.5:n.537C>G
ENST00000479558.5:n.719C>G
ENST00000494398.5:n.721C>G
NM_001030311.2:c.799C>G	NP_001025482.1:p.His267Asp
NM_001030312.2:c.482-8957C>G	NP_001025483.1:n.482-8957C>G
NM_001030313.2:c.614-8957C>G	NP_001025484.1:n.614-8957C>G
NM_001160277.1:c.667C>G	NP_001153749.1:p.His223Asp
NM_201548.4:c.721C>G	NP_963842.1:p.His241Asp
NR_027689.1:n.626C>G
NR_027690.1:n.758C>G
NM_201548.5:c.721C>G MANE Select	NP_963842.1:p.His241Asp
NM_001030311.3:c.799C>G	NP_001025482.1:p.His267Asp
NM_001030312.3:c.482-8957C>G	NP_001025483.1:n.482-8957C>G
NM_001030313.3:c.614-8957C>G	NP_001025484.1:n.614-8957C>G
NM_001160277.2:c.667C>G	NP_001153749.1:p.His223Asp
NR_027689.2:n.624C>G
NR_027690.2:n.756C>G