Canonical Allele Identifier: CA363491302

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937358C>A (hg19) ; chr6:g.31969581C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969581C>A , CM000668.2:g.31969581C>A	GRCh38
NC_000006.11:g.31937358C>A , CM000668.1:g.31937358C>A	GRCh37
NC_000006.10:g.32045337C>A	NCBI36
NG_032652.1:g.15778C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2655C>A	ENSP00000419905.1:n.*2655C>A
ENST00000485349.6:n.4083C>A
ENST00000491994.2:c.*149C>A	ENSP00000417586.2:n.*149C>A
ENST00000494058.6:n.3909C>A
ENST00000697831.1:c.3538C>A	ENSP00000513453.1:p.Leu1180Met
ENST00000697832.1:n.3760C>A
ENST00000697833.1:c.*555C>A	ENSP00000513454.1:n.*555C>A
ENST00000697834.1:n.4325C>A
ENST00000697835.1:c.*3125C>A	ENSP00000513455.1:n.*3125C>A
ENST00000697836.1:n.3961C>A
ENST00000697837.1:c.*723C>A	ENSP00000513456.1:n.*723C>A
ENST00000697838.1:c.3472C>A	ENSP00000513457.1:p.Leu1158Met
ENST00000697839.1:n.4419C>A
ENST00000697840.1:c.3643C>A	ENSP00000513458.1:p.Leu1215Met
ENST00000697841.1:n.4518C>A
ENST00000697842.1:n.3862C>A
ENST00000375394.7:c.3607C>A MANE Select	ENSP00000364543.2:p.Leu1203Met
ENST00000375394.6:c.3607C>A	ENSP00000364543.2:p.Leu1203Met
ENST00000465703.5:n.4337C>A
ENST00000470453.1:n.449C>A
ENST00000471818.1:n.536C>A
ENST00000474839.5:c.*2979C>A	ENSP00000420470.1:n.*2979C>A
ENST00000483553.5:c.1137C>A
ENST00000491994.1:c.696C>A
NM_006929.4:c.3607C>A	NP_008860.4:p.Leu1203Met
XR_926301.3:n.3623C>A
NM_006929.5:c.3607C>A MANE Select	NP_008860.4:p.Leu1203Met