Canonical Allele Identifier: CA363492297

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937448C>G (hg19) ; chr6:g.31969671C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969671C>G , CM000668.2:g.31969671C>G	GRCh38
NC_000006.11:g.31937448C>G , CM000668.1:g.31937448C>G	GRCh37
NC_000006.10:g.32045427C>G	NCBI36
NG_032652.1:g.15868C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2745C>G	ENSP00000419905.1:n.*2745C>G
ENST00000485349.6:n.4173C>G
ENST00000491994.2:c.*239C>G	ENSP00000417586.2:n.*239C>G
ENST00000494058.6:n.3999C>G
ENST00000697831.1:c.3628C>G	ENSP00000513453.1:p.Leu1210Val
ENST00000697832.1:n.3850C>G
ENST00000697834.1:n.4415C>G
ENST00000697835.1:c.*3215C>G	ENSP00000513455.1:n.*3215C>G
ENST00000697836.1:n.4051C>G
ENST00000697837.1:c.*813C>G	ENSP00000513456.1:n.*813C>G
ENST00000697838.1:c.3562C>G	ENSP00000513457.1:p.Leu1188Val
ENST00000697839.1:n.4509C>G
ENST00000697840.1:c.3733C>G	ENSP00000513458.1:p.Leu1245Val
ENST00000697841.1:n.4608C>G
ENST00000697842.1:n.3952C>G
ENST00000375394.7:c.3697C>G MANE Select	ENSP00000364543.2:p.Leu1233Val
ENST00000375394.6:c.3697C>G	ENSP00000364543.2:p.Leu1233Val
ENST00000465703.5:n.4427C>G
ENST00000471818.1:n.626C>G
ENST00000474839.5:c.*3069C>G	ENSP00000420470.1:n.*3069C>G
ENST00000483553.5:c.1227C>G
ENST00000491994.1:c.786C>G
NM_006929.4:c.3697C>G	NP_008860.4:p.Leu1233Val
XR_926301.3:n.3713C>G
NM_006929.5:c.3697C>G MANE Select	NP_008860.4:p.Leu1233Val