Canonical Allele Identifier: CA430407785

Gene: CERKL

Linked Data

• gnomAD v4: 2-181558660-A-C
• MyVariant Identifiers: chr2:g.182423387A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181558660A>C , CM000664.2:g.181558660A>C	GRCh38
NC_000002.11:g.182423387A>C , CM000664.1:g.182423387A>C	GRCh37
NC_000002.10:g.182131632A>C	NCBI36
NG_021178.1:g.103448T>G
NG_021178.2:g.103448T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684145.1:c.-31T>G	ENSP00000508396.1:n.-31T>G
ENST00000410087.8:c.726T>G MANE Select	ENSP00000386725.3:p.Ala242=
ENST00000339098.9:c.804T>G	ENSP00000341159.5:p.Ala268=
ENST00000374967.6:c.662T>G	ENSP00000364106.2:n.662T>G
ENST00000374969.6:c.482-8952T>G	ENSP00000364108.2:n.482-8952T>G
ENST00000374970.6:c.614-8952T>G	ENSP00000364109.2:n.614-8952T>G
ENST00000409440.7:c.672T>G	ENSP00000387080.3:p.Ala224=
ENST00000410087.7:c.726T>G	ENSP00000386725.3:p.Ala242=
ENST00000421817.5:c.*8T>G	ENSP00000411466.1:n.*8T>G
ENST00000452174.5:c.530T>G	ENSP00000409198.1:n.530T>G
ENST00000466715.5:n.542T>G
ENST00000479558.5:n.724T>G
ENST00000494398.5:n.726T>G
NM_001030311.2:c.804T>G	NP_001025482.1:p.Ala268=
NM_001030312.2:c.482-8952T>G	NP_001025483.1:n.482-8952T>G
NM_001030313.2:c.614-8952T>G	NP_001025484.1:n.614-8952T>G
NM_001160277.1:c.672T>G	NP_001153749.1:p.Ala224=
NM_201548.4:c.726T>G	NP_963842.1:p.Ala242=
NR_027689.1:n.631T>G
NR_027690.1:n.763T>G
NM_201548.5:c.726T>G MANE Select	NP_963842.1:p.Ala242=
NM_001030311.3:c.804T>G	NP_001025482.1:p.Ala268=
NM_001030312.3:c.482-8952T>G	NP_001025483.1:n.482-8952T>G
NM_001030313.3:c.614-8952T>G	NP_001025484.1:n.614-8952T>G
NM_001160277.2:c.672T>G	NP_001153749.1:p.Ala224=
NR_027689.2:n.629T>G
NR_027690.2:n.761T>G