Canonical Allele Identifier: CA363464324

Gene: SKIC2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31964262G>A , CM000668.2:g.31964262G>A	GRCh38
NC_000006.11:g.31932039G>A , CM000668.1:g.31932039G>A	GRCh37
NC_000006.10:g.32040018G>A	NCBI36
NG_032652.1:g.10459G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006929.5:c.1891G>A MANE Select	NP_008860.4:p.Gly631Ser
ENST00000375394.7:c.1891G>A MANE Select	ENSP00000364543.2:p.Gly631Ser
NM_006929.4:c.1891G>A	NP_008860.4:p.Gly631Ser
ENST00000375394.6:c.1891G>A	ENSP00000364543.2:p.Gly631Ser
ENST00000461073.6:c.*910G>A	ENSP00000419905.1:n.*910G>A
ENST00000465703.5:n.2390G>A
ENST00000474839.5:c.*1263G>A	ENSP00000420470.1:n.*1263G>A
ENST00000483553.6:c.1891G>A	ENSP00000420332.2:p.Gly631Ser
ENST00000485349.6:n.1932G>A
ENST00000491994.2:c.1891G>A	ENSP00000417586.2:p.Gly631Ser
ENST00000494058.6:n.1948G>A
ENST00000697831.1:c.1891G>A	ENSP00000513453.1:p.Gly631Ser
ENST00000697832.1:n.2044G>A
ENST00000697833.1:c.1891G>A	ENSP00000513454.1:p.Gly631Ser
ENST00000697834.1:n.1943G>A
ENST00000697835.1:c.*1409G>A	ENSP00000513455.1:n.*1409G>A
ENST00000697836.1:n.1927G>A
ENST00000697837.1:c.1891G>A	ENSP00000513456.1:p.Gly631Ser
ENST00000697838.1:c.1756G>A	ENSP00000513457.1:p.Gly586Ser
ENST00000697839.1:n.2174G>A
ENST00000697840.1:c.1927G>A	ENSP00000513458.1:p.Gly643Ser
ENST00000697841.1:n.2463G>A
ENST00000697842.1:n.1891G>A
XM_006715168.2:c.1891G>A	XP_006715231.1:p.Gly631Ser
XM_011514815.1:c.1891G>A	XP_011513117.1:p.Gly631Ser
XM_011514815.3:c.1891G>A	XP_011513117.1:p.Gly631Ser
XR_001743586.2:n.1927G>A
XR_926301.1:n.1979G>A
XR_926301.3:n.1927G>A