Canonical Allele Identifier: CA2010676

Gene: CERKL

Linked Data

• dbSNP Id: rs778601169
• ExAC: 2:182423397 A / G
• gnomAD v2: 2-182423397-A-G
• gnomAD v4: 2-181558670-A-G
• MyVariant Identifiers: chr2:g.182423397A>G (hg19) ; chr2:g.181558670A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181558670A>G , CM000664.2:g.181558670A>G	GRCh38
NC_000002.11:g.182423397A>G , CM000664.1:g.182423397A>G	GRCh37
NC_000002.10:g.182131642A>G	NCBI36
NG_021178.1:g.103438T>C
NG_021178.2:g.103438T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684145.1:c.-41T>C	ENSP00000508396.1:n.-41T>C
ENST00000410087.8:c.716T>C MANE Select	ENSP00000386725.3:p.Val239Ala
ENST00000339098.9:c.794T>C	ENSP00000341159.5:p.Val265Ala
ENST00000374967.6:c.652T>C	ENSP00000364106.2:p.Ter218Gln
ENST00000374969.6:c.482-8962T>C	ENSP00000364108.2:n.482-8962T>C
ENST00000374970.6:c.614-8962T>C	ENSP00000364109.2:n.614-8962T>C
ENST00000409440.7:c.662T>C	ENSP00000387080.3:p.Val221Ala
ENST00000410087.7:c.716T>C	ENSP00000386725.3:p.Val239Ala
ENST00000421817.5:c.520T>C	ENSP00000411466.1:p.Ter174Gln
ENST00000452174.5:c.520T>C	ENSP00000409198.1:p.Ter174Gln
ENST00000466715.5:n.532T>C
ENST00000479558.5:n.714T>C
ENST00000494398.5:n.716T>C
NM_001030311.2:c.794T>C	NP_001025482.1:p.Val265Ala
NM_001030312.2:c.482-8962T>C	NP_001025483.1:n.482-8962T>C
NM_001030313.2:c.614-8962T>C	NP_001025484.1:n.614-8962T>C
NM_001160277.1:c.662T>C	NP_001153749.1:p.Val221Ala
NM_201548.4:c.716T>C	NP_963842.1:p.Val239Ala
NR_027689.1:n.621T>C
NR_027690.1:n.753T>C
NM_201548.5:c.716T>C MANE Select	NP_963842.1:p.Val239Ala
NM_001030311.3:c.794T>C	NP_001025482.1:p.Val265Ala
NM_001030312.3:c.482-8962T>C	NP_001025483.1:n.482-8962T>C
NM_001030313.3:c.614-8962T>C	NP_001025484.1:n.614-8962T>C
NM_001160277.2:c.662T>C	NP_001153749.1:p.Val221Ala
NR_027689.2:n.619T>C
NR_027690.2:n.751T>C