Canonical Allele Identifier: CA363490384

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937189C>G (hg19) ; chr6:g.31969412C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969412C>G , CM000668.2:g.31969412C>G	GRCh38
NC_000006.11:g.31937189C>G , CM000668.1:g.31937189C>G	GRCh37
NC_000006.10:g.32045168C>G	NCBI36
NG_032652.1:g.15609C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2486C>G	ENSP00000419905.1:n.*2486C>G
ENST00000483553.6:c.*499C>G	ENSP00000420332.2:n.*499C>G
ENST00000485349.6:n.4008C>G
ENST00000491994.2:c.3532C>G	ENSP00000417586.2:p.Arg1178Gly
ENST00000494058.6:n.3834C>G
ENST00000697831.1:c.3463C>G	ENSP00000513453.1:p.Arg1155Gly
ENST00000697832.1:n.3685C>G
ENST00000697833.1:c.*480C>G	ENSP00000513454.1:n.*480C>G
ENST00000697834.1:n.4156C>G
ENST00000697835.1:c.*3050C>G	ENSP00000513455.1:n.*3050C>G
ENST00000697836.1:n.3863C>G
ENST00000697837.1:c.*648C>G	ENSP00000513456.1:n.*648C>G
ENST00000697838.1:c.3397C>G	ENSP00000513457.1:p.Arg1133Gly
ENST00000697839.1:n.4250C>G
ENST00000697840.1:c.3568C>G	ENSP00000513458.1:p.Arg1190Gly
ENST00000697841.1:n.4349C>G
ENST00000697842.1:n.3787C>G
ENST00000375394.7:c.3532C>G MANE Select	ENSP00000364543.2:p.Arg1178Gly
ENST00000375394.6:c.3532C>G	ENSP00000364543.2:p.Arg1178Gly
ENST00000465703.5:n.4168C>G
ENST00000470453.1:n.382+96C>G
ENST00000471818.1:n.461C>G
ENST00000474839.5:c.*2904C>G	ENSP00000420470.1:n.*2904C>G
ENST00000483553.5:c.968C>G
ENST00000491994.1:c.527C>G
NM_006929.4:c.3532C>G	NP_008860.4:p.Arg1178Gly
XR_001743586.2:n.3631C>G
XR_926301.3:n.3548C>G
NM_006929.5:c.3532C>G MANE Select	NP_008860.4:p.Arg1178Gly