Canonical Allele Identifier: CA2578573586

Gene: SKIC2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969738G>T , CM000668.2:g.31969738G>T	GRCh38
NC_000006.11:g.31937515G>T , CM000668.1:g.31937515G>T	GRCh37
NC_000006.10:g.32045494G>T	NCBI36
NG_032652.1:g.15935G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2812G>T	ENSP00000419905.1:n.*2812G>T
ENST00000494058.6:n.4066G>T
ENST00000697831.1:c.*23G>T	ENSP00000513453.1:n.*23G>T
ENST00000697832.1:n.3917G>T
ENST00000697835.1:c.*3282G>T	ENSP00000513455.1:n.*3282G>T
ENST00000697837.1:c.*880G>T	ENSP00000513456.1:n.*880G>T
ENST00000697838.1:c.*23G>T	ENSP00000513457.1:n.*23G>T
ENST00000697840.1:c.*23G>T	ENSP00000513458.1:n.*23G>T
ENST00000697842.1:n.4019G>T
ENST00000375394.7:c.*23G>T MANE Select	ENSP00000364543.2:n.*23G>T
ENST00000375394.6:c.*23G>T	ENSP00000364543.2:n.*23G>T
ENST00000465703.5:n.4494G>T
ENST00000471818.1:n.693G>T
ENST00000474839.5:c.*3136G>T	ENSP00000420470.1:n.*3136G>T
ENST00000483553.5:c.1294G>T
ENST00000491994.1:c.853G>T
NM_006929.4:c.*23G>T	NP_008860.4:n.*23G>T
XR_926301.3:n.3780G>T
NM_006929.5:c.*23G>T MANE Select	NP_008860.4:n.*23G>T