Canonical Allele Identifier: CA248433
Gene: SKIC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 162167
ClinVar RCV Id: RCV000190303
dbSNP Id: rs429608
gnomAD v2: 6-31930462-G-A
gnomAD v3: 6-31962685-G-A
gnomAD v4: 6-31962685-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31962685G>A , CM000668.2:g.31962685G>A GRCh38
NC_000006.11:g.31930462G>A , CM000668.1:g.31930462G>A GRCh37
NC_000006.10:g.32038441G>A NCBI36
NG_032652.1:g.8882G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000461073.6:c.*328-29G>A ENSP00000419905.1:n.*328-29G>A
ENST00000483553.6:c.1212-29G>A ENSP00000420332.2:n.1212-29G>A
ENST00000485349.6:n.1253-29G>A
ENST00000491994.2:c.1212-29G>A ENSP00000417586.2:n.1212-29G>A
ENST00000494058.6:n.1269-29G>A
ENST00000697831.1:c.1212-29G>A ENSP00000513453.1:n.1212-29G>A
ENST00000697832.1:n.1288-29G>A
ENST00000697833.1:c.1212-29G>A ENSP00000513454.1:n.1212-29G>A
ENST00000697834.1:n.1264-29G>A
ENST00000697835.1:c.*730-29G>A ENSP00000513455.1:n.*730-29G>A
ENST00000697836.1:n.1248-29G>A
ENST00000697837.1:c.1212-29G>A ENSP00000513456.1:n.1212-29G>A
ENST00000697838.1:c.1077-29G>A ENSP00000513457.1:n.1077-29G>A
ENST00000697839.1:n.1495-29G>A
ENST00000697840.1:c.1248-29G>A ENSP00000513458.1:n.1248-29G>A
ENST00000697841.1:n.1784-29G>A
ENST00000697842.1:n.1212-29G>A
ENST00000375394.7:c.1212-29G>A MANE Select ENSP00000364543.2:n.1212-29G>A
ENST00000375394.6:c.1212-29G>A ENSP00000364543.2:n.1212-29G>A
ENST00000461073.5:c.*328-29G>A ENSP00000419905.1:n.*328-29G>A
ENST00000465703.5:n.1525-29G>A
ENST00000466290.1:n.473-29G>A
ENST00000474839.5:c.*584-29G>A ENSP00000420470.1:n.*584-29G>A
NM_006929.4:c.1212-29G>A NP_008860.4:n.1212-29G>A
XM_006715168.2:c.1212-29G>A XP_006715231.1:n.1212-29G>A
XM_011514815.1:c.1212-29G>A XP_011513117.1:n.1212-29G>A
XR_926301.1:n.1300-29G>A
XM_011514815.3:c.1212-29G>A XP_011513117.1:n.1212-29G>A
XR_001743586.2:n.1248-29G>A
XR_926301.3:n.1248-29G>A
NM_006929.5:c.1212-29G>A MANE Select NP_008860.4:n.1212-29G>A