Canonical Allele Identifier: CA136914548

Gene: SKIC2

Linked Data

• ClinVar Variation Id: 2004363
• ClinVar RCV Id: RCV002828250
• dbSNP Id: rs199933076
• gnomAD v3: 6-31969428-C-T
• gnomAD v4: 6-31969428-C-T
• MyVariant Identifiers: chr6:g.31937205C>T (hg19) ; chr6:g.31969428C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969428C>T , CM000668.2:g.31969428C>T	GRCh38
NC_000006.11:g.31937205C>T , CM000668.1:g.31937205C>T	GRCh37
NC_000006.10:g.32045184C>T	NCBI36
NG_032652.1:g.15625C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2502C>T	ENSP00000419905.1:n.*2502C>T
ENST00000483553.6:c.*515C>T	ENSP00000420332.2:n.*515C>T
ENST00000485349.6:n.4016+8C>T
ENST00000491994.2:c.3548C>T	ENSP00000417586.2:p.Thr1183Ile
ENST00000494058.6:n.3842+8C>T
ENST00000697831.1:c.3471+8C>T	ENSP00000513453.1:n.3471+8C>T
ENST00000697832.1:n.3693+8C>T
ENST00000697833.1:c.*488+8C>T	ENSP00000513454.1:n.*488+8C>T
ENST00000697834.1:n.4172C>T
ENST00000697835.1:c.*3058+8C>T	ENSP00000513455.1:n.*3058+8C>T
ENST00000697836.1:n.3871+8C>T
ENST00000697837.1:c.*656+8C>T	ENSP00000513456.1:n.*656+8C>T
ENST00000697838.1:c.3405+8C>T	ENSP00000513457.1:n.3405+8C>T
ENST00000697839.1:n.4266C>T
ENST00000697840.1:c.3576+8C>T	ENSP00000513458.1:n.3576+8C>T
ENST00000697841.1:n.4365C>T
ENST00000697842.1:n.3795+8C>T
ENST00000375394.7:c.3540+8C>T MANE Select	ENSP00000364543.2:n.3540+8C>T
ENST00000375394.6:c.3540+8C>T	ENSP00000364543.2:n.3540+8C>T
ENST00000465703.5:n.4184C>T
ENST00000470453.1:n.383-87C>T
ENST00000471818.1:n.469+8C>T
ENST00000474839.5:c.*2912+8C>T	ENSP00000420470.1:n.*2912+8C>T
ENST00000483553.5:c.984C>T
ENST00000491994.1:c.543C>T
NM_006929.4:c.3540+8C>T	NP_008860.4:n.3540+8C>T
XR_001743586.2:n.3647C>T
XR_926301.3:n.3556+8C>T
NM_006929.5:c.3540+8C>T MANE Select	NP_008860.4:n.3540+8C>T