Canonical Allele Identifier: CA3729242

Gene: SKIC2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31961338C>G , CM000668.2:g.31961338C>G	GRCh38
NC_000006.11:g.31929115C>G , CM000668.1:g.31929115C>G	GRCh37
NC_000006.10:g.32037094C>G	NCBI36
NG_032652.1:g.7535C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006929.5:c.741C>G MANE Select	NP_008860.4:p.Cys247Trp
ENST00000375394.7:c.741C>G MANE Select	ENSP00000364543.2:p.Cys247Trp
NM_006929.4:c.741C>G	NP_008860.4:p.Cys247Trp
ENST00000375394.6:c.741C>G	ENSP00000364543.2:p.Cys247Trp
ENST00000461073.5:c.599-209C>G	ENSP00000419905.1:n.599-209C>G
ENST00000461073.6:c.599-209C>G	ENSP00000419905.1:n.599-209C>G
ENST00000465703.5:n.894C>G
ENST00000474839.5:c.*113C>G	ENSP00000420470.1:n.*113C>G
ENST00000483553.6:c.741C>G	ENSP00000420332.2:p.Cys247Trp
ENST00000485349.6:n.782C>G
ENST00000488648.5:n.675-3C>G
ENST00000491994.2:c.741C>G	ENSP00000417586.2:p.Cys247Trp
ENST00000494058.6:n.798C>G
ENST00000697831.1:c.741C>G	ENSP00000513453.1:p.Cys247Trp
ENST00000697832.1:n.817C>G
ENST00000697833.1:c.741C>G	ENSP00000513454.1:p.Cys247Trp
ENST00000697834.1:n.793C>G
ENST00000697835.1:c.*259C>G	ENSP00000513455.1:n.*259C>G
ENST00000697836.1:n.777C>G
ENST00000697837.1:c.741C>G	ENSP00000513456.1:p.Cys247Trp
ENST00000697838.1:c.606C>G	ENSP00000513457.1:p.Cys202Trp
ENST00000697839.1:n.864C>G
ENST00000697840.1:c.777C>G	ENSP00000513458.1:p.Cys259Trp
ENST00000697841.1:n.1153C>G
ENST00000697842.1:n.741C>G
XM_006715168.2:c.741C>G	XP_006715231.1:p.Cys247Trp
XM_011514815.1:c.741C>G	XP_011513117.1:p.Cys247Trp
XM_011514815.3:c.741C>G	XP_011513117.1:p.Cys247Trp
XR_001743586.2:n.777C>G
XR_926301.1:n.829C>G
XR_926301.3:n.777C>G