Canonical Allele Identifier: CA566692925
Gene: SKIC2 HGNC NCBI

Linked Data

dbSNP Id: rs1170646139
gnomAD v2: 6-31927968-G-T
gnomAD v4: 6-31960191-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31960191G>T , CM000668.2:g.31960191G>T GRCh38
NC_000006.11:g.31927968G>T , CM000668.1:g.31927968G>T GRCh37
NC_000006.10:g.32035947G>T NCBI36
NG_032652.1:g.6388G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000461073.6:c.237-29G>T ENSP00000419905.1:n.237-29G>T
ENST00000483553.6:c.237-29G>T ENSP00000420332.2:n.237-29G>T
ENST00000485349.6:n.278-29G>T
ENST00000491994.2:c.237-29G>T ENSP00000417586.2:n.237-29G>T
ENST00000494058.6:n.294-29G>T
ENST00000697831.1:c.237-29G>T ENSP00000513453.1:n.237-29G>T
ENST00000697832.1:n.313-29G>T
ENST00000697833.1:c.237-29G>T ENSP00000513454.1:n.237-29G>T
ENST00000697834.1:n.289-29G>T
ENST00000697835.1:c.237-10G>T ENSP00000513455.1:n.237-10G>T
ENST00000697836.1:n.273-29G>T
ENST00000697837.1:c.237-29G>T ENSP00000513456.1:n.237-29G>T
ENST00000697838.1:c.102-29G>T ENSP00000513457.1:n.102-29G>T
ENST00000697839.1:n.259-29G>T
ENST00000697840.1:c.237-29G>T ENSP00000513458.1:n.237-29G>T
ENST00000697841.1:n.248-29G>T
ENST00000697842.1:n.237-29G>T
ENST00000375394.7:c.237-29G>T MANE Select ENSP00000364543.2:n.237-29G>T
ENST00000375394.6:c.237-29G>T ENSP00000364543.2:n.237-29G>T
ENST00000461073.5:c.237-29G>T ENSP00000419905.1:n.237-29G>T
ENST00000465703.5:n.289-29G>T
ENST00000474839.5:c.126+791G>T ENSP00000420470.1:n.126+791G>T
ENST00000488648.5:n.313-29G>T
ENST00000628157.1:c.126+791G>T ENSP00000485707.1:n.126+791G>T
NM_006929.4:c.237-29G>T NP_008860.4:n.237-29G>T
XM_006715168.2:c.237-29G>T XP_006715231.1:n.237-29G>T
XM_011514815.1:c.237-29G>T XP_011513117.1:n.237-29G>T
XR_926301.1:n.325-29G>T
XM_011514815.3:c.237-29G>T XP_011513117.1:n.237-29G>T
XR_001743586.2:n.273-29G>T
XR_926301.3:n.273-29G>T
NM_006929.5:c.237-29G>T MANE Select NP_008860.4:n.237-29G>T