Canonical Allele Identifier: CA349740898

Gene: CERKL

Linked Data

• gnomAD v4: 2-181558667-G-T
• MyVariant Identifiers: chr2:g.182423394G>T (hg19) ; chr2:g.181558667G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181558667G>T , CM000664.2:g.181558667G>T	GRCh38
NC_000002.11:g.182423394G>T , CM000664.1:g.182423394G>T	GRCh37
NC_000002.10:g.182131639G>T	NCBI36
NG_021178.1:g.103441C>A
NG_021178.2:g.103441C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684145.1:c.-38C>A	ENSP00000508396.1:n.-38C>A
ENST00000410087.8:c.719C>A MANE Select	ENSP00000386725.3:p.Ala240Asp
ENST00000339098.9:c.797C>A	ENSP00000341159.5:p.Ala266Asp
ENST00000374967.6:c.655C>A	ENSP00000364106.2:n.655C>A
ENST00000374969.6:c.482-8959C>A	ENSP00000364108.2:n.482-8959C>A
ENST00000374970.6:c.614-8959C>A	ENSP00000364109.2:n.614-8959C>A
ENST00000409440.7:c.665C>A	ENSP00000387080.3:p.Ala222Asp
ENST00000410087.7:c.719C>A	ENSP00000386725.3:p.Ala240Asp
ENST00000421817.5:c.*1C>A	ENSP00000411466.1:n.*1C>A
ENST00000452174.5:c.523C>A	ENSP00000409198.1:n.523C>A
ENST00000466715.5:n.535C>A
ENST00000479558.5:n.717C>A
ENST00000494398.5:n.719C>A
NM_001030311.2:c.797C>A	NP_001025482.1:p.Ala266Asp
NM_001030312.2:c.482-8959C>A	NP_001025483.1:n.482-8959C>A
NM_001030313.2:c.614-8959C>A	NP_001025484.1:n.614-8959C>A
NM_001160277.1:c.665C>A	NP_001153749.1:p.Ala222Asp
NM_201548.4:c.719C>A	NP_963842.1:p.Ala240Asp
NR_027689.1:n.624C>A
NR_027690.1:n.756C>A
NM_201548.5:c.719C>A MANE Select	NP_963842.1:p.Ala240Asp
NM_001030311.3:c.797C>A	NP_001025482.1:p.Ala266Asp
NM_001030312.3:c.482-8959C>A	NP_001025483.1:n.482-8959C>A
NM_001030313.3:c.614-8959C>A	NP_001025484.1:n.614-8959C>A
NM_001160277.2:c.665C>A	NP_001153749.1:p.Ala222Asp
NR_027689.2:n.622C>A
NR_027690.2:n.754C>A