Canonical Allele Identifier: CA2739912280

Gene: SKIC2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969429C>A , CM000668.2:g.31969429C>A	GRCh38
NC_000006.11:g.31937206C>A , CM000668.1:g.31937206C>A	GRCh37
NC_000006.10:g.32045185C>A	NCBI36
NG_032652.1:g.15626C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2503C>A	ENSP00000419905.1:n.*2503C>A
ENST00000483553.6:c.*516C>A	ENSP00000420332.2:n.*516C>A
ENST00000485349.6:n.4016+9C>A
ENST00000491994.2:c.3549C>A	ENSP00000417586.2:p.Thr1183=
ENST00000494058.6:n.3842+9C>A
ENST00000697831.1:c.3471+9C>A	ENSP00000513453.1:n.3471+9C>A
ENST00000697832.1:n.3693+9C>A
ENST00000697833.1:c.*488+9C>A	ENSP00000513454.1:n.*488+9C>A
ENST00000697834.1:n.4173C>A
ENST00000697835.1:c.*3058+9C>A	ENSP00000513455.1:n.*3058+9C>A
ENST00000697836.1:n.3871+9C>A
ENST00000697837.1:c.*656+9C>A	ENSP00000513456.1:n.*656+9C>A
ENST00000697838.1:c.3405+9C>A	ENSP00000513457.1:n.3405+9C>A
ENST00000697839.1:n.4267C>A
ENST00000697840.1:c.3576+9C>A	ENSP00000513458.1:n.3576+9C>A
ENST00000697841.1:n.4366C>A
ENST00000697842.1:n.3795+9C>A
ENST00000375394.7:c.3540+9C>A MANE Select	ENSP00000364543.2:n.3540+9C>A
ENST00000375394.6:c.3540+9C>A	ENSP00000364543.2:n.3540+9C>A
ENST00000465703.5:n.4185C>A
ENST00000470453.1:n.383-86C>A
ENST00000471818.1:n.469+9C>A
ENST00000474839.5:c.*2912+9C>A	ENSP00000420470.1:n.*2912+9C>A
ENST00000483553.5:c.985C>A
ENST00000491994.1:c.544C>A
NM_006929.4:c.3540+9C>A	NP_008860.4:n.3540+9C>A
XR_001743586.2:n.3648C>A
XR_926301.3:n.3556+9C>A
NM_006929.5:c.3540+9C>A MANE Select	NP_008860.4:n.3540+9C>A