Canonical Allele Identifier: CA3730117

Gene: SKIC2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969685C>T , CM000668.2:g.31969685C>T	GRCh38
NC_000006.11:g.31937462C>T , CM000668.1:g.31937462C>T	GRCh37
NC_000006.10:g.32045441C>T	NCBI36
NG_032652.1:g.15882C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006929.5:c.3711C>T MANE Select	NP_008860.4:p.Ile1237=
ENST00000375394.7:c.3711C>T MANE Select	ENSP00000364543.2:p.Ile1237=
NM_006929.4:c.3711C>T	NP_008860.4:p.Ile1237=
ENST00000375394.6:c.3711C>T	ENSP00000364543.2:p.Ile1237=
ENST00000461073.6:c.*2759C>T	ENSP00000419905.1:n.*2759C>T
ENST00000465703.5:n.4441C>T
ENST00000471818.1:n.640C>T
ENST00000474839.5:c.*3083C>T	ENSP00000420470.1:n.*3083C>T
ENST00000483553.5:c.1241C>T
ENST00000485349.6:n.4187C>T
ENST00000491994.1:c.800C>T
ENST00000491994.2:c.*253C>T	ENSP00000417586.2:n.*253C>T
ENST00000494058.6:n.4013C>T
ENST00000697831.1:c.3642C>T	ENSP00000513453.1:p.Ile1214=
ENST00000697832.1:n.3864C>T
ENST00000697834.1:n.4429C>T
ENST00000697835.1:c.*3229C>T	ENSP00000513455.1:n.*3229C>T
ENST00000697836.1:n.4065C>T
ENST00000697837.1:c.*827C>T	ENSP00000513456.1:n.*827C>T
ENST00000697838.1:c.3576C>T	ENSP00000513457.1:p.Ile1192=
ENST00000697839.1:n.4523C>T
ENST00000697840.1:c.3747C>T	ENSP00000513458.1:p.Ile1249=
ENST00000697841.1:n.4622C>T
ENST00000697842.1:n.3966C>T
XR_926301.3:n.3727C>T