Canonical Allele Identifier: CA363489815

Gene: SKIC2

Linked Data

• ClinVar Variation Id: 2637258
• ClinVar RCV Id: RCV003403055
• COSMIC: COSM1077757 ; COSM1077758
• MyVariant Identifiers: chr6:g.31937115G>A (hg19) ; chr6:g.31969338G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969338G>A , CM000668.2:g.31969338G>A	GRCh38
NC_000006.11:g.31937115G>A , CM000668.1:g.31937115G>A	GRCh37
NC_000006.10:g.32045094G>A	NCBI36
NG_032652.1:g.15535G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2412G>A	ENSP00000419905.1:n.*2412G>A
ENST00000483553.6:c.*425G>A	ENSP00000420332.2:n.*425G>A
ENST00000485349.6:n.3934G>A
ENST00000491994.2:c.3458G>A	ENSP00000417586.2:p.Gly1153Asp
ENST00000494058.6:n.3760G>A
ENST00000697831.1:c.3389G>A	ENSP00000513453.1:p.Gly1130Asp
ENST00000697832.1:n.3611G>A
ENST00000697833.1:c.*406G>A	ENSP00000513454.1:n.*406G>A
ENST00000697834.1:n.4082G>A
ENST00000697835.1:c.*2976G>A	ENSP00000513455.1:n.*2976G>A
ENST00000697836.1:n.3789G>A
ENST00000697837.1:c.*574G>A	ENSP00000513456.1:n.*574G>A
ENST00000697838.1:c.3323G>A	ENSP00000513457.1:p.Gly1108Asp
ENST00000697839.1:n.4176G>A
ENST00000697840.1:c.3494G>A	ENSP00000513458.1:p.Gly1165Asp
ENST00000697841.1:n.4275G>A
ENST00000697842.1:n.3713G>A
ENST00000375394.7:c.3458G>A MANE Select	ENSP00000364543.2:p.Gly1153Asp
ENST00000375394.6:c.3458G>A	ENSP00000364543.2:p.Gly1153Asp
ENST00000465703.5:n.4094G>A
ENST00000470453.1:n.382+22G>A
ENST00000471818.1:n.387G>A
ENST00000474839.5:c.*2830G>A	ENSP00000420470.1:n.*2830G>A
ENST00000483553.5:c.894G>A
ENST00000485349.5:n.664G>A
ENST00000491994.1:c.453G>A
NM_006929.4:c.3458G>A	NP_008860.4:p.Gly1153Asp
XR_001743586.2:n.3557G>A
XR_926301.3:n.3474G>A
NM_006929.5:c.3458G>A MANE Select	NP_008860.4:p.Gly1153Asp