Canonical Allele Identifier: CA449814046

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937300C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969523C>G , CM000668.2:g.31969523C>G	GRCh38
NC_000006.11:g.31937300C>G , CM000668.1:g.31937300C>G	GRCh37
NC_000006.10:g.32045279C>G	NCBI36
NG_032652.1:g.15720C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2597C>G	ENSP00000419905.1:n.*2597C>G
ENST00000485349.6:n.4025C>G
ENST00000491994.2:c.*91C>G	ENSP00000417586.2:n.*91C>G
ENST00000494058.6:n.3851C>G
ENST00000697831.1:c.3480C>G	ENSP00000513453.1:p.Ser1160=
ENST00000697832.1:n.3702C>G
ENST00000697833.1:c.*497C>G	ENSP00000513454.1:n.*497C>G
ENST00000697834.1:n.4267C>G
ENST00000697835.1:c.*3067C>G	ENSP00000513455.1:n.*3067C>G
ENST00000697836.1:n.3903C>G
ENST00000697837.1:c.*665C>G	ENSP00000513456.1:n.*665C>G
ENST00000697838.1:c.3414C>G	ENSP00000513457.1:p.Ser1138=
ENST00000697839.1:n.4361C>G
ENST00000697840.1:c.3585C>G	ENSP00000513458.1:p.Ser1195=
ENST00000697841.1:n.4460C>G
ENST00000697842.1:n.3804C>G
ENST00000375394.7:c.3549C>G MANE Select	ENSP00000364543.2:p.Ser1183=
ENST00000375394.6:c.3549C>G	ENSP00000364543.2:p.Ser1183=
ENST00000465703.5:n.4279C>G
ENST00000470453.1:n.391C>G
ENST00000471818.1:n.478C>G
ENST00000474839.5:c.*2921C>G	ENSP00000420470.1:n.*2921C>G
ENST00000483553.5:c.1079C>G
ENST00000491994.1:c.638C>G
NM_006929.4:c.3549C>G	NP_008860.4:p.Ser1183=
XR_926301.3:n.3565C>G
NM_006929.5:c.3549C>G MANE Select	NP_008860.4:p.Ser1183=