Canonical Allele Identifier: CA349740552

Gene: CERKL

Linked Data

• dbSNP Id: rs1425736542
• gnomAD v2: 2-182423358-C-A
• gnomAD v4: 2-181558631-C-A
• MyVariant Identifiers: chr2:g.182423358C>A (hg19) ; chr2:g.181558631C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181558631C>A , CM000664.2:g.181558631C>A	GRCh38
NC_000002.11:g.182423358C>A , CM000664.1:g.182423358C>A	GRCh37
NC_000002.10:g.182131603C>A	NCBI36
NG_021178.1:g.103477G>T
NG_021178.2:g.103477G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684145.1:c.-2G>T	ENSP00000508396.1:n.-2G>T
ENST00000410087.8:c.755G>T MANE Select	ENSP00000386725.3:p.Gly252Val
ENST00000339098.9:c.833G>T	ENSP00000341159.5:p.Gly278Val
ENST00000374967.6:c.691G>T	ENSP00000364106.2:n.691G>T
ENST00000374969.6:c.482-8923G>T	ENSP00000364108.2:n.482-8923G>T
ENST00000374970.6:c.614-8923G>T	ENSP00000364109.2:n.614-8923G>T
ENST00000409440.7:c.701G>T	ENSP00000387080.3:p.Gly234Val
ENST00000410087.7:c.755G>T	ENSP00000386725.3:p.Gly252Val
ENST00000421817.5:c.*37G>T	ENSP00000411466.1:n.*37G>T
ENST00000452174.5:c.559G>T	ENSP00000409198.1:n.559G>T
ENST00000479558.5:n.753G>T
ENST00000494398.5:n.755G>T
NM_001030311.2:c.833G>T	NP_001025482.1:p.Gly278Val
NM_001030312.2:c.482-8923G>T	NP_001025483.1:n.482-8923G>T
NM_001030313.2:c.614-8923G>T	NP_001025484.1:n.614-8923G>T
NM_001160277.1:c.701G>T	NP_001153749.1:p.Gly234Val
NM_201548.4:c.755G>T	NP_963842.1:p.Gly252Val
NR_027689.1:n.660G>T
NR_027690.1:n.792G>T
NM_201548.5:c.755G>T MANE Select	NP_963842.1:p.Gly252Val
NM_001030311.3:c.833G>T	NP_001025482.1:p.Gly278Val
NM_001030312.3:c.482-8923G>T	NP_001025483.1:n.482-8923G>T
NM_001030313.3:c.614-8923G>T	NP_001025484.1:n.614-8923G>T
NM_001160277.2:c.701G>T	NP_001153749.1:p.Gly234Val
NR_027689.2:n.658G>T
NR_027690.2:n.790G>T