Canonical Allele Identifier: CA538113033

Gene: CERKL

Linked Data

• dbSNP Id: rs1235351306
• gnomAD v2: 2-182423701-A-G
• gnomAD v3: 2-181558974-A-G
• gnomAD v4: 2-181558974-A-G
• MyVariant Identifiers: chr2:g.182423701A>G (hg19) ; chr2:g.181558974A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181558974A>G , CM000664.2:g.181558974A>G	GRCh38
NC_000002.11:g.182423701A>G , CM000664.1:g.182423701A>G	GRCh37
NC_000002.10:g.182131946A>G	NCBI36
NG_021178.1:g.103134T>C
NG_021178.2:g.103134T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684145.1:c.-79-266T>C	ENSP00000508396.1:n.-79-266T>C
ENST00000410087.8:c.678-266T>C MANE Select	ENSP00000386725.3:n.678-266T>C
ENST00000339098.9:c.756-266T>C	ENSP00000341159.5:n.756-266T>C
ENST00000374967.6:c.614-266T>C	ENSP00000364106.2:n.614-266T>C
ENST00000374969.6:c.482-9266T>C	ENSP00000364108.2:n.482-9266T>C
ENST00000374970.6:c.614-9266T>C	ENSP00000364109.2:n.614-9266T>C
ENST00000409440.7:c.624-266T>C	ENSP00000387080.3:n.624-266T>C
ENST00000410087.7:c.678-266T>C	ENSP00000386725.3:n.678-266T>C
ENST00000421817.5:c.482-266T>C	ENSP00000411466.1:n.482-266T>C
ENST00000452174.5:c.482-266T>C	ENSP00000409198.1:n.482-266T>C
ENST00000466715.5:n.494-266T>C
ENST00000479558.5:n.676-266T>C
ENST00000494398.5:n.678-266T>C
NM_001030311.2:c.756-266T>C	NP_001025482.1:n.756-266T>C
NM_001030312.2:c.482-9266T>C	NP_001025483.1:n.482-9266T>C
NM_001030313.2:c.614-9266T>C	NP_001025484.1:n.614-9266T>C
NM_001160277.1:c.624-266T>C	NP_001153749.1:n.624-266T>C
NM_201548.4:c.678-266T>C	NP_963842.1:n.678-266T>C
NR_027689.1:n.583-266T>C
NR_027690.1:n.715-266T>C
NM_201548.5:c.678-266T>C MANE Select	NP_963842.1:n.678-266T>C
NM_001030311.3:c.756-266T>C	NP_001025482.1:n.756-266T>C
NM_001030312.3:c.482-9266T>C	NP_001025483.1:n.482-9266T>C
NM_001030313.3:c.614-9266T>C	NP_001025484.1:n.614-9266T>C
NM_001160277.2:c.624-266T>C	NP_001153749.1:n.624-266T>C
NR_027689.2:n.581-266T>C
NR_027690.2:n.713-266T>C