Canonical Allele Identifier: CA363490389

Gene: SKIC2

Linked Data

• dbSNP Id: rs1263295962
• gnomAD v2: 6-31937189-C-T
• gnomAD v3: 6-31969412-C-T
• gnomAD v4: 6-31969412-C-T
• COSMIC: COSM741818 ; COSM3624942
• MyVariant Identifiers: chr6:g.31937189C>T (hg19) ; chr6:g.31969412C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2486C>T	ENSP00000419905.1:n.*2486C>T
ENST00000483553.6:c.*499C>T	ENSP00000420332.2:n.*499C>T
ENST00000485349.6:n.4008C>T
ENST00000491994.2:c.3532C>T	ENSP00000417586.2:p.Arg1178Trp
ENST00000494058.6:n.3834C>T
ENST00000697831.1:c.3463C>T	ENSP00000513453.1:p.Arg1155Trp
ENST00000697832.1:n.3685C>T
ENST00000697833.1:c.*480C>T	ENSP00000513454.1:n.*480C>T
ENST00000697834.1:n.4156C>T
ENST00000697835.1:c.*3050C>T	ENSP00000513455.1:n.*3050C>T
ENST00000697836.1:n.3863C>T
ENST00000697837.1:c.*648C>T	ENSP00000513456.1:n.*648C>T
ENST00000697838.1:c.3397C>T	ENSP00000513457.1:p.Arg1133Trp
ENST00000697839.1:n.4250C>T
ENST00000697840.1:c.3568C>T	ENSP00000513458.1:p.Arg1190Trp
ENST00000697841.1:n.4349C>T
ENST00000697842.1:n.3787C>T
ENST00000375394.7:c.3532C>T MANE Select	ENSP00000364543.2:p.Arg1178Trp
ENST00000375394.6:c.3532C>T	ENSP00000364543.2:p.Arg1178Trp
ENST00000465703.5:n.4168C>T
ENST00000470453.1:n.382+96C>T
ENST00000471818.1:n.461C>T
ENST00000474839.5:c.*2904C>T	ENSP00000420470.1:n.*2904C>T
ENST00000483553.5:c.968C>T
ENST00000491994.1:c.527C>T
NM_006929.4:c.3532C>T	NP_008860.4:p.Arg1178Trp
XR_001743586.2:n.3631C>T
XR_926301.3:n.3548C>T
NM_006929.5:c.3532C>T MANE Select	NP_008860.4:p.Arg1178Trp