Canonical Allele Identifier: CA3730108

Gene: SKIC2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969640G>A , CM000668.2:g.31969640G>A	GRCh38
NC_000006.11:g.31937417G>A , CM000668.1:g.31937417G>A	GRCh37
NC_000006.10:g.32045396G>A	NCBI36
NG_032652.1:g.15837G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006929.5:c.3666G>A MANE Select	NP_008860.4:p.Leu1222=
ENST00000375394.7:c.3666G>A MANE Select	ENSP00000364543.2:p.Leu1222=
NM_006929.4:c.3666G>A	NP_008860.4:p.Leu1222=
ENST00000375394.6:c.3666G>A	ENSP00000364543.2:p.Leu1222=
ENST00000461073.6:c.*2714G>A	ENSP00000419905.1:n.*2714G>A
ENST00000465703.5:n.4396G>A
ENST00000471818.1:n.595G>A
ENST00000474839.5:c.*3038G>A	ENSP00000420470.1:n.*3038G>A
ENST00000483553.5:c.1196G>A
ENST00000485349.6:n.4142G>A
ENST00000491994.1:c.755G>A
ENST00000491994.2:c.*208G>A	ENSP00000417586.2:n.*208G>A
ENST00000494058.6:n.3968G>A
ENST00000697831.1:c.3597G>A	ENSP00000513453.1:p.Leu1199=
ENST00000697832.1:n.3819G>A
ENST00000697834.1:n.4384G>A
ENST00000697835.1:c.*3184G>A	ENSP00000513455.1:n.*3184G>A
ENST00000697836.1:n.4020G>A
ENST00000697837.1:c.*782G>A	ENSP00000513456.1:n.*782G>A
ENST00000697838.1:c.3531G>A	ENSP00000513457.1:p.Leu1177=
ENST00000697839.1:n.4478G>A
ENST00000697840.1:c.3702G>A	ENSP00000513458.1:p.Leu1234=
ENST00000697841.1:n.4577G>A
ENST00000697842.1:n.3921G>A
XR_926301.3:n.3682G>A