Canonical Allele Identifier: CA2578573587

Gene: SKIC2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969745C>T , CM000668.2:g.31969745C>T	GRCh38
NC_000006.11:g.31937522C>T , CM000668.1:g.31937522C>T	GRCh37
NC_000006.10:g.32045501C>T	NCBI36
NG_032652.1:g.15942C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2819C>T	ENSP00000419905.1:n.*2819C>T
ENST00000697831.1:c.*30C>T	ENSP00000513453.1:n.*30C>T
ENST00000697835.1:c.*3289C>T	ENSP00000513455.1:n.*3289C>T
ENST00000697838.1:c.*30C>T	ENSP00000513457.1:n.*30C>T
ENST00000375394.7:c.*30C>T MANE Select	ENSP00000364543.2:n.*30C>T
ENST00000375394.6:c.*30C>T	ENSP00000364543.2:n.*30C>T
ENST00000465703.5:n.4501C>T
ENST00000471818.1:n.700C>T
ENST00000474839.5:c.*3143C>T	ENSP00000420470.1:n.*3143C>T
ENST00000483553.5:c.1301C>T
ENST00000491994.1:c.860C>T
NM_006929.4:c.*30C>T	NP_008860.4:n.*30C>T
XR_926301.3:n.3787C>T
NM_006929.5:c.*30C>T MANE Select	NP_008860.4:n.*30C>T