Canonical Allele Identifier: CA566692919
Gene: SKIC2 HGNC NCBI

Linked Data

dbSNP Id: rs1415588097
gnomAD v2: 6-31927920-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31960143A>C , CM000668.2:g.31960143A>C GRCh38
NC_000006.11:g.31927920A>C , CM000668.1:g.31927920A>C GRCh37
NC_000006.10:g.32035899A>C NCBI36
NG_032652.1:g.6340A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000461073.6:c.236+24A>C ENSP00000419905.1:n.236+24A>C
ENST00000483553.6:c.236+24A>C ENSP00000420332.2:n.236+24A>C
ENST00000485349.6:n.277+24A>C
ENST00000491994.2:c.236+24A>C ENSP00000417586.2:n.236+24A>C
ENST00000494058.6:n.293+24A>C
ENST00000697831.1:c.236+24A>C ENSP00000513453.1:n.236+24A>C
ENST00000697832.1:n.312+24A>C
ENST00000697833.1:c.236+24A>C ENSP00000513454.1:n.236+24A>C
ENST00000697834.1:n.288+24A>C
ENST00000697835.1:c.236+24A>C ENSP00000513455.1:n.236+24A>C
ENST00000697836.1:n.272+24A>C
ENST00000697837.1:c.236+24A>C ENSP00000513456.1:n.236+24A>C
ENST00000697838.1:c.101+24A>C ENSP00000513457.1:n.101+24A>C
ENST00000697839.1:n.258+24A>C
ENST00000697840.1:c.236+24A>C ENSP00000513458.1:n.236+24A>C
ENST00000697841.1:n.247+24A>C
ENST00000697842.1:n.236+24A>C
ENST00000375394.7:c.236+24A>C MANE Select ENSP00000364543.2:n.236+24A>C
ENST00000375394.6:c.236+24A>C ENSP00000364543.2:n.236+24A>C
ENST00000461073.5:c.236+24A>C ENSP00000419905.1:n.236+24A>C
ENST00000465703.5:n.288+24A>C
ENST00000474839.5:c.126+743A>C ENSP00000420470.1:n.126+743A>C
ENST00000488648.5:n.312+24A>C
ENST00000628157.1:c.126+743A>C ENSP00000485707.1:n.126+743A>C
NM_006929.4:c.236+24A>C NP_008860.4:n.236+24A>C
XM_006715168.2:c.236+24A>C XP_006715231.1:n.236+24A>C
XM_011514815.1:c.236+24A>C XP_011513117.1:n.236+24A>C
XR_926301.1:n.324+24A>C
XM_011514815.3:c.236+24A>C XP_011513117.1:n.236+24A>C
XR_001743586.2:n.272+24A>C
XR_926301.3:n.272+24A>C
NM_006929.5:c.236+24A>C MANE Select NP_008860.4:n.236+24A>C