Canonical Allele Identifier: CA349740807

Gene: CERKL

Linked Data

• dbSNP Id: rs1688309693
• MyVariant Identifiers: chr2:g.182423388G>A (hg19) ; chr2:g.181558661G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181558661G>A , CM000664.2:g.181558661G>A	GRCh38
NC_000002.11:g.182423388G>A , CM000664.1:g.182423388G>A	GRCh37
NC_000002.10:g.182131633G>A	NCBI36
NG_021178.1:g.103447C>T
NG_021178.2:g.103447C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684145.1:c.-32C>T	ENSP00000508396.1:n.-32C>T
ENST00000410087.8:c.725C>T MANE Select	ENSP00000386725.3:p.Ala242Val
ENST00000339098.9:c.803C>T	ENSP00000341159.5:p.Ala268Val
ENST00000374967.6:c.661C>T	ENSP00000364106.2:n.661C>T
ENST00000374969.6:c.482-8953C>T	ENSP00000364108.2:n.482-8953C>T
ENST00000374970.6:c.614-8953C>T	ENSP00000364109.2:n.614-8953C>T
ENST00000409440.7:c.671C>T	ENSP00000387080.3:p.Ala224Val
ENST00000410087.7:c.725C>T	ENSP00000386725.3:p.Ala242Val
ENST00000421817.5:c.*7C>T	ENSP00000411466.1:n.*7C>T
ENST00000452174.5:c.529C>T	ENSP00000409198.1:n.529C>T
ENST00000466715.5:n.541C>T
ENST00000479558.5:n.723C>T
ENST00000494398.5:n.725C>T
NM_001030311.2:c.803C>T	NP_001025482.1:p.Ala268Val
NM_001030312.2:c.482-8953C>T	NP_001025483.1:n.482-8953C>T
NM_001030313.2:c.614-8953C>T	NP_001025484.1:n.614-8953C>T
NM_001160277.1:c.671C>T	NP_001153749.1:p.Ala224Val
NM_201548.4:c.725C>T	NP_963842.1:p.Ala242Val
NR_027689.1:n.630C>T
NR_027690.1:n.762C>T
NM_201548.5:c.725C>T MANE Select	NP_963842.1:p.Ala242Val
NM_001030311.3:c.803C>T	NP_001025482.1:p.Ala268Val
NM_001030312.3:c.482-8953C>T	NP_001025483.1:n.482-8953C>T
NM_001030313.3:c.614-8953C>T	NP_001025484.1:n.614-8953C>T
NM_001160277.2:c.671C>T	NP_001153749.1:p.Ala224Val
NR_027689.2:n.628C>T
NR_027690.2:n.760C>T