Canonical Allele Identifier: CA2578573583

Gene: SKIC2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969499C>T , CM000668.2:g.31969499C>T	GRCh38
NC_000006.11:g.31937276C>T , CM000668.1:g.31937276C>T	GRCh37
NC_000006.10:g.32045255C>T	NCBI36
NG_032652.1:g.15696C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2573C>T	ENSP00000419905.1:n.*2573C>T
ENST00000483553.6:c.*586C>T	ENSP00000420332.2:n.*586C>T
ENST00000485349.6:n.4017-16C>T
ENST00000491994.2:c.*67C>T	ENSP00000417586.2:n.*67C>T
ENST00000494058.6:n.3843-16C>T
ENST00000697831.1:c.3472-16C>T	ENSP00000513453.1:n.3472-16C>T
ENST00000697832.1:n.3694-16C>T
ENST00000697833.1:c.*489-16C>T	ENSP00000513454.1:n.*489-16C>T
ENST00000697834.1:n.4243C>T
ENST00000697835.1:c.*3059-16C>T	ENSP00000513455.1:n.*3059-16C>T
ENST00000697836.1:n.3879C>T
ENST00000697837.1:c.*657-16C>T	ENSP00000513456.1:n.*657-16C>T
ENST00000697838.1:c.3406-16C>T	ENSP00000513457.1:n.3406-16C>T
ENST00000697839.1:n.4337C>T
ENST00000697840.1:c.3577-16C>T	ENSP00000513458.1:n.3577-16C>T
ENST00000697841.1:n.4436C>T
ENST00000697842.1:n.3796-16C>T
ENST00000375394.7:c.3541-16C>T MANE Select	ENSP00000364543.2:n.3541-16C>T
ENST00000375394.6:c.3541-16C>T	ENSP00000364543.2:n.3541-16C>T
ENST00000465703.5:n.4255C>T
ENST00000470453.1:n.383-16C>T
ENST00000471818.1:n.470-16C>T
ENST00000474839.5:c.*2913-16C>T	ENSP00000420470.1:n.*2913-16C>T
ENST00000483553.5:c.1055C>T
ENST00000491994.1:c.614C>T
NM_006929.4:c.3541-16C>T	NP_008860.4:n.3541-16C>T
XR_001743586.2:n.3718C>T
XR_926301.3:n.3557-16C>T
NM_006929.5:c.3541-16C>T MANE Select	NP_008860.4:n.3541-16C>T