Canonical Allele Identifier: CA566367201

Gene: SKIC2

Linked Data

• ClinVar Variation Id: 2784655
• ClinVar RCV Id: RCV003662372
• dbSNP Id: rs1371701354
• gnomAD v2: 6-31930202-T-C
• gnomAD v4: 6-31962425-T-C
• MyVariant Identifiers: chr6:g.31930202T>C (hg19) ; chr6:g.31962425T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31962425T>C , CM000668.2:g.31962425T>C	GRCh38
NC_000006.11:g.31930202T>C , CM000668.1:g.31930202T>C	GRCh37
NC_000006.10:g.32038181T>C	NCBI36
NG_032652.1:g.8622T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*181-14T>C	ENSP00000419905.1:n.*181-14T>C
ENST00000483553.6:c.1065-14T>C	ENSP00000420332.2:n.1065-14T>C
ENST00000485349.6:n.1106-14T>C
ENST00000491994.2:c.1065-14T>C	ENSP00000417586.2:n.1065-14T>C
ENST00000494058.6:n.1122-14T>C
ENST00000697831.1:c.1065-14T>C	ENSP00000513453.1:n.1065-14T>C
ENST00000697832.1:n.1141-14T>C
ENST00000697833.1:c.1065-14T>C	ENSP00000513454.1:n.1065-14T>C
ENST00000697834.1:n.1117-14T>C
ENST00000697835.1:c.*583-14T>C	ENSP00000513455.1:n.*583-14T>C
ENST00000697836.1:n.1101-14T>C
ENST00000697837.1:c.1065-14T>C	ENSP00000513456.1:n.1065-14T>C
ENST00000697838.1:c.930-14T>C	ENSP00000513457.1:n.930-14T>C
ENST00000697839.1:n.1348-14T>C
ENST00000697840.1:c.1101-14T>C	ENSP00000513458.1:n.1101-14T>C
ENST00000697841.1:n.1637-14T>C
ENST00000697842.1:n.1065-14T>C
ENST00000375394.7:c.1065-14T>C MANE Select	ENSP00000364543.2:n.1065-14T>C
ENST00000375394.6:c.1065-14T>C	ENSP00000364543.2:n.1065-14T>C
ENST00000461073.5:c.*181-14T>C	ENSP00000419905.1:n.*181-14T>C
ENST00000465703.5:n.1378-14T>C
ENST00000466290.1:n.326-14T>C
ENST00000474839.5:c.*437-14T>C	ENSP00000420470.1:n.*437-14T>C
NM_006929.4:c.1065-14T>C	NP_008860.4:n.1065-14T>C
XM_006715168.2:c.1065-14T>C	XP_006715231.1:n.1065-14T>C
XM_011514815.1:c.1065-14T>C	XP_011513117.1:n.1065-14T>C
XR_926301.1:n.1153-14T>C
XM_011514815.3:c.1065-14T>C	XP_011513117.1:n.1065-14T>C
XR_001743586.2:n.1101-14T>C
XR_926301.3:n.1101-14T>C
NM_006929.5:c.1065-14T>C MANE Select	NP_008860.4:n.1065-14T>C