Canonical Allele Identifier: CA566692926
Gene: SKIC2 HGNC NCBI

Linked Data

dbSNP Id: rs1358192515
gnomAD v2: 6-31927978-T-C
gnomAD v4: 6-31960201-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31960201T>C , CM000668.2:g.31960201T>C GRCh38
NC_000006.11:g.31927978T>C , CM000668.1:g.31927978T>C GRCh37
NC_000006.10:g.32035957T>C NCBI36
NG_032652.1:g.6398T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000461073.6:c.237-19T>C ENSP00000419905.1:n.237-19T>C
ENST00000483553.6:c.237-19T>C ENSP00000420332.2:n.237-19T>C
ENST00000485349.6:n.278-19T>C
ENST00000491994.2:c.237-19T>C ENSP00000417586.2:n.237-19T>C
ENST00000494058.6:n.294-19T>C
ENST00000697831.1:c.237-19T>C ENSP00000513453.1:n.237-19T>C
ENST00000697832.1:n.313-19T>C
ENST00000697833.1:c.237-19T>C ENSP00000513454.1:n.237-19T>C
ENST00000697834.1:n.289-19T>C
ENST00000697835.1:c.237T>C ENSP00000513455.1:p.Arg79=
ENST00000697836.1:n.273-19T>C
ENST00000697837.1:c.237-19T>C ENSP00000513456.1:n.237-19T>C
ENST00000697838.1:c.102-19T>C ENSP00000513457.1:n.102-19T>C
ENST00000697839.1:n.259-19T>C
ENST00000697840.1:c.237-19T>C ENSP00000513458.1:n.237-19T>C
ENST00000697841.1:n.248-19T>C
ENST00000697842.1:n.237-19T>C
ENST00000375394.7:c.237-19T>C MANE Select ENSP00000364543.2:n.237-19T>C
ENST00000375394.6:c.237-19T>C ENSP00000364543.2:n.237-19T>C
ENST00000461073.5:c.237-19T>C ENSP00000419905.1:n.237-19T>C
ENST00000465703.5:n.289-19T>C
ENST00000474839.5:c.126+801T>C ENSP00000420470.1:n.126+801T>C
ENST00000488648.5:n.313-19T>C
ENST00000628157.1:c.126+801T>C ENSP00000485707.1:n.126+801T>C
NM_006929.4:c.237-19T>C NP_008860.4:n.237-19T>C
XM_006715168.2:c.237-19T>C XP_006715231.1:n.237-19T>C
XM_011514815.1:c.237-19T>C XP_011513117.1:n.237-19T>C
XR_926301.1:n.325-19T>C
XM_011514815.3:c.237-19T>C XP_011513117.1:n.237-19T>C
XR_001743586.2:n.273-19T>C
XR_926301.3:n.273-19T>C
NM_006929.5:c.237-19T>C MANE Select NP_008860.4:n.237-19T>C