Canonical Allele Identifier: CA3730076

Gene: SKIC2

Linked Data

• ClinVar Variation Id: 2507358
• ClinVar RCV Id: RCV003239249
• dbSNP Id: rs762135217
• ExAC: 6:31937190 G / C
• gnomAD v2: 6-31937190-G-C
• gnomAD v4: 6-31969413-G-C
• MyVariant Identifiers: chr6:g.31937190G>C (hg19) ; chr6:g.31969413G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969413G>C , CM000668.2:g.31969413G>C	GRCh38
NC_000006.11:g.31937190G>C , CM000668.1:g.31937190G>C	GRCh37
NC_000006.10:g.32045169G>C	NCBI36
NG_032652.1:g.15610G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2487G>C	ENSP00000419905.1:n.*2487G>C
ENST00000483553.6:c.*500G>C	ENSP00000420332.2:n.*500G>C
ENST00000485349.6:n.4009G>C
ENST00000491994.2:c.3533G>C	ENSP00000417586.2:p.Arg1178Pro
ENST00000494058.6:n.3835G>C
ENST00000697831.1:c.3464G>C	ENSP00000513453.1:p.Arg1155Pro
ENST00000697832.1:n.3686G>C
ENST00000697833.1:c.*481G>C	ENSP00000513454.1:n.*481G>C
ENST00000697834.1:n.4157G>C
ENST00000697835.1:c.*3051G>C	ENSP00000513455.1:n.*3051G>C
ENST00000697836.1:n.3864G>C
ENST00000697837.1:c.*649G>C	ENSP00000513456.1:n.*649G>C
ENST00000697838.1:c.3398G>C	ENSP00000513457.1:p.Arg1133Pro
ENST00000697839.1:n.4251G>C
ENST00000697840.1:c.3569G>C	ENSP00000513458.1:p.Arg1190Pro
ENST00000697841.1:n.4350G>C
ENST00000697842.1:n.3788G>C
ENST00000375394.7:c.3533G>C MANE Select	ENSP00000364543.2:p.Arg1178Pro
ENST00000375394.6:c.3533G>C	ENSP00000364543.2:p.Arg1178Pro
ENST00000465703.5:n.4169G>C
ENST00000470453.1:n.382+97G>C
ENST00000471818.1:n.462G>C
ENST00000474839.5:c.*2905G>C	ENSP00000420470.1:n.*2905G>C
ENST00000483553.5:c.969G>C
ENST00000491994.1:c.528G>C
NM_006929.4:c.3533G>C	NP_008860.4:p.Arg1178Pro
XR_001743586.2:n.3632G>C
XR_926301.3:n.3549G>C
NM_006929.5:c.3533G>C MANE Select	NP_008860.4:p.Arg1178Pro