Canonical Allele Identifier: CA363490896

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937317C>G (hg19) ; chr6:g.31969540C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969540C>G , CM000668.2:g.31969540C>G	GRCh38
NC_000006.11:g.31937317C>G , CM000668.1:g.31937317C>G	GRCh37
NC_000006.10:g.32045296C>G	NCBI36
NG_032652.1:g.15737C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2614C>G	ENSP00000419905.1:n.*2614C>G
ENST00000485349.6:n.4042C>G
ENST00000491994.2:c.*108C>G	ENSP00000417586.2:n.*108C>G
ENST00000494058.6:n.3868C>G
ENST00000697831.1:c.3497C>G	ENSP00000513453.1:p.Ser1166Ter
ENST00000697832.1:n.3719C>G
ENST00000697833.1:c.*514C>G	ENSP00000513454.1:n.*514C>G
ENST00000697834.1:n.4284C>G
ENST00000697835.1:c.*3084C>G	ENSP00000513455.1:n.*3084C>G
ENST00000697836.1:n.3920C>G
ENST00000697837.1:c.*682C>G	ENSP00000513456.1:n.*682C>G
ENST00000697838.1:c.3431C>G	ENSP00000513457.1:p.Ser1144Ter
ENST00000697839.1:n.4378C>G
ENST00000697840.1:c.3602C>G	ENSP00000513458.1:p.Ser1201Ter
ENST00000697841.1:n.4477C>G
ENST00000697842.1:n.3821C>G
ENST00000375394.7:c.3566C>G MANE Select	ENSP00000364543.2:p.Ser1189Ter
ENST00000375394.6:c.3566C>G	ENSP00000364543.2:p.Ser1189Ter
ENST00000465703.5:n.4296C>G
ENST00000470453.1:n.408C>G
ENST00000471818.1:n.495C>G
ENST00000474839.5:c.*2938C>G	ENSP00000420470.1:n.*2938C>G
ENST00000483553.5:c.1096C>G
ENST00000491994.1:c.655C>G
NM_006929.4:c.3566C>G	NP_008860.4:p.Ser1189Ter
XR_926301.3:n.3582C>G
NM_006929.5:c.3566C>G MANE Select	NP_008860.4:p.Ser1189Ter