Canonical Allele Identifier: CA566693090

Gene: SKIC2

Linked Data

• dbSNP Id: rs1246580841
• gnomAD v2: 6-31937210-G-A
• MyVariant Identifiers: chr6:g.31937210G>A (hg19) ; chr6:g.31969433G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969433G>A , CM000668.2:g.31969433G>A	GRCh38
NC_000006.11:g.31937210G>A , CM000668.1:g.31937210G>A	GRCh37
NC_000006.10:g.32045189G>A	NCBI36
NG_032652.1:g.15630G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2507G>A	ENSP00000419905.1:n.*2507G>A
ENST00000483553.6:c.*520G>A	ENSP00000420332.2:n.*520G>A
ENST00000485349.6:n.4016+13G>A
ENST00000491994.2:c.*1G>A	ENSP00000417586.2:n.*1G>A
ENST00000494058.6:n.3842+13G>A
ENST00000697831.1:c.3471+13G>A	ENSP00000513453.1:n.3471+13G>A
ENST00000697832.1:n.3693+13G>A
ENST00000697833.1:c.*488+13G>A	ENSP00000513454.1:n.*488+13G>A
ENST00000697834.1:n.4177G>A
ENST00000697835.1:c.*3058+13G>A	ENSP00000513455.1:n.*3058+13G>A
ENST00000697836.1:n.3871+13G>A
ENST00000697837.1:c.*656+13G>A	ENSP00000513456.1:n.*656+13G>A
ENST00000697838.1:c.3405+13G>A	ENSP00000513457.1:n.3405+13G>A
ENST00000697839.1:n.4271G>A
ENST00000697840.1:c.3576+13G>A	ENSP00000513458.1:n.3576+13G>A
ENST00000697841.1:n.4370G>A
ENST00000697842.1:n.3795+13G>A
ENST00000375394.7:c.3540+13G>A MANE Select	ENSP00000364543.2:n.3540+13G>A
ENST00000375394.6:c.3540+13G>A	ENSP00000364543.2:n.3540+13G>A
ENST00000465703.5:n.4189G>A
ENST00000470453.1:n.383-82G>A
ENST00000471818.1:n.469+13G>A
ENST00000474839.5:c.*2912+13G>A	ENSP00000420470.1:n.*2912+13G>A
ENST00000483553.5:c.989G>A
ENST00000491994.1:c.548G>A
NM_006929.4:c.3540+13G>A	NP_008860.4:n.3540+13G>A
XR_001743586.2:n.3652G>A
XR_926301.3:n.3556+13G>A
NM_006929.5:c.3540+13G>A MANE Select	NP_008860.4:n.3540+13G>A