Canonical Allele Identifier: CA363490588

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937291G>A (hg19) ; chr6:g.31969514G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969514G>A , CM000668.2:g.31969514G>A	GRCh38
NC_000006.11:g.31937291G>A , CM000668.1:g.31937291G>A	GRCh37
NC_000006.10:g.32045270G>A	NCBI36
NG_032652.1:g.15711G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2588G>A	ENSP00000419905.1:n.*2588G>A
ENST00000485349.6:n.4017-1G>A
ENST00000491994.2:c.*82G>A	ENSP00000417586.2:n.*82G>A
ENST00000494058.6:n.3843-1G>A
ENST00000697831.1:c.3472-1G>A	ENSP00000513453.1:n.3472-1G>A
ENST00000697832.1:n.3694-1G>A
ENST00000697833.1:c.*489-1G>A	ENSP00000513454.1:n.*489-1G>A
ENST00000697834.1:n.4258G>A
ENST00000697835.1:c.*3059-1G>A	ENSP00000513455.1:n.*3059-1G>A
ENST00000697836.1:n.3894G>A
ENST00000697837.1:c.*657-1G>A	ENSP00000513456.1:n.*657-1G>A
ENST00000697838.1:c.3406-1G>A	ENSP00000513457.1:n.3406-1G>A
ENST00000697839.1:n.4352G>A
ENST00000697840.1:c.3577-1G>A	ENSP00000513458.1:n.3577-1G>A
ENST00000697841.1:n.4451G>A
ENST00000697842.1:n.3796-1G>A
ENST00000375394.7:c.3541-1G>A MANE Select	ENSP00000364543.2:n.3541-1G>A
ENST00000375394.6:c.3541-1G>A	ENSP00000364543.2:n.3541-1G>A
ENST00000465703.5:n.4270G>A
ENST00000470453.1:n.383-1G>A
ENST00000471818.1:n.470-1G>A
ENST00000474839.5:c.*2913-1G>A	ENSP00000420470.1:n.*2913-1G>A
ENST00000483553.5:c.1070G>A
ENST00000491994.1:c.629G>A
NM_006929.4:c.3541-1G>A	NP_008860.4:n.3541-1G>A
XR_926301.3:n.3557-1G>A
NM_006929.5:c.3541-1G>A MANE Select	NP_008860.4:n.3541-1G>A