Canonical Allele Identifier: CA1143086
Community Standard Title: NM_001294338.2(CLK2):c.669G>C (p.Lys223Asn)
Gene: CLK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155268012C>G , CM000663.2:g.155268012C>G GRCh38
NC_000001.10:g.155237803C>G , CM000663.1:g.155237803C>G GRCh37
NC_000001.9:g.153504427C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001294338.2:c.669G>C MANE Select NP_001281267.1:p.Lys223Asn
ENST00000368361.9:c.669G>C MANE Select ENSP00000357345.4:p.Lys223Asn
NM_001294338.1:c.669G>C NP_001281267.1:p.Lys223Asn
NM_001294339.1:c.-16G>C NP_001281268.1:n.-16G>C
NM_001294339.2:c.-16G>C NP_001281268.1:n.-16G>C
NM_001363704.1:c.663G>C NP_001350633.1:p.Lys221Asn
NM_001363704.2:c.663G>C NP_001350633.1:p.Lys221Asn
NM_003993.3:c.666G>C NP_003984.2:p.Lys222Asn
NM_003993.4:c.666G>C NP_003984.2:p.Lys222Asn
ENST00000355560.4:c.663G>C ENSP00000347759.4:p.Lys221Asn
ENST00000361168.9:c.666G>C ENSP00000354856.5:p.Lys222Asn
ENST00000368361.8:c.669G>C ENSP00000357345.4:p.Lys223Asn
ENST00000476983.5:n.710G>C
ENST00000497188.1:n.1186G>C
XM_005244878.1:c.663G>C XP_005244935.1:p.Lys221Asn
XM_011509143.1:c.666G>C XP_011507445.1:p.Lys222Asn
XM_011509143.2:c.666G>C XP_011507445.1:p.Lys222Asn
XM_011509144.1:c.669G>C XP_011507446.1:p.Lys223Asn
XM_011509145.1:c.23G>C XP_011507447.1:p.Arg8Thr
XM_011509146.1:c.23G>C XP_011507448.1:p.Arg8Thr
XM_011509147.1:c.23G>C XP_011507449.1:p.Arg8Thr
XR_241067.2:n.983G>C