Canonical Allele Identifier: CA99777118
Gene: CDKL2 HGNC NCBI

Linked Data

dbSNP Id: rs6852678
gnomAD v2: 4-76542749-C-T
gnomAD v3: 4-75617565-C-T
gnomAD v4: 4-75617565-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.75617565C>T , CM000666.2:g.75617565C>T GRCh38
NC_000004.11:g.76542749C>T , CM000666.1:g.76542749C>T GRCh37
NC_000004.10:g.76761773C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000307465.9:c.169-3116G>A MANE Select ENSP00000306340.4:n.169-3116G>A
ENST00000307465.8:c.169-3116G>A ENSP00000306340.4:n.169-3116G>A
ENST00000429927.6:c.169-3116G>A ENSP00000412365.2:n.169-3116G>A
ENST00000506234.1:c.168+8256G>A ENSP00000422666.1:n.168+8256G>A
NM_003948.3:c.169-3116G>A NP_003939.1:n.169-3116G>A
XM_005263335.2:c.169-3116G>A XP_005263392.1:n.169-3116G>A
XM_006714406.2:c.169-3116G>A XP_006714469.1:n.169-3116G>A
XM_006714407.2:c.169-3116G>A XP_006714470.1:n.169-3116G>A
NM_001330724.1:c.169-3116G>A NP_001317653.1:n.169-3116G>A
NM_003948.4:c.169-3116G>A NP_003939.1:n.169-3116G>A
XM_017008809.1:c.169-3116G>A XP_016864298.1:n.169-3116G>A
XM_017008810.1:c.169-3116G>A XP_016864299.1:n.169-3116G>A
XM_017008811.1:c.169-3116G>A XP_016864300.1:n.169-3116G>A
XR_001741344.1:n.413-3116G>A
XR_001741345.1:n.413-3116G>A
NM_001330724.2:c.169-3116G>A MANE Select NP_001317653.1:n.169-3116G>A
NM_003948.5:c.169-3116G>A NP_003939.1:n.169-3116G>A