Canonical Allele Identifier: CA3730103

Gene: SKIC2

Linked Data

• dbSNP Id: rs780914425
• ExAC: 6:31937380 T / C
• gnomAD v2: 6-31937380-T-C
• gnomAD v3: 6-31969603-T-C
• gnomAD v4: 6-31969603-T-C
• MyVariant Identifiers: chr6:g.31937380T>C (hg19) ; chr6:g.31969603T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969603T>C , CM000668.2:g.31969603T>C	GRCh38
NC_000006.11:g.31937380T>C , CM000668.1:g.31937380T>C	GRCh37
NC_000006.10:g.32045359T>C	NCBI36
NG_032652.1:g.15800T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2677T>C	ENSP00000419905.1:n.*2677T>C
ENST00000485349.6:n.4105T>C
ENST00000491994.2:c.*171T>C	ENSP00000417586.2:n.*171T>C
ENST00000494058.6:n.3931T>C
ENST00000697831.1:c.3560T>C	ENSP00000513453.1:p.Leu1187Pro
ENST00000697832.1:n.3782T>C
ENST00000697834.1:n.4347T>C
ENST00000697835.1:c.*3147T>C	ENSP00000513455.1:n.*3147T>C
ENST00000697836.1:n.3983T>C
ENST00000697837.1:c.*745T>C	ENSP00000513456.1:n.*745T>C
ENST00000697838.1:c.3494T>C	ENSP00000513457.1:p.Leu1165Pro
ENST00000697839.1:n.4441T>C
ENST00000697840.1:c.3665T>C	ENSP00000513458.1:p.Leu1222Pro
ENST00000697841.1:n.4540T>C
ENST00000697842.1:n.3884T>C
ENST00000375394.7:c.3629T>C MANE Select	ENSP00000364543.2:p.Leu1210Pro
ENST00000375394.6:c.3629T>C	ENSP00000364543.2:p.Leu1210Pro
ENST00000465703.5:n.4359T>C
ENST00000471818.1:n.558T>C
ENST00000474839.5:c.*3001T>C	ENSP00000420470.1:n.*3001T>C
ENST00000483553.5:c.1159T>C
ENST00000491994.1:c.718T>C
NM_006929.4:c.3629T>C	NP_008860.4:p.Leu1210Pro
XR_926301.3:n.3645T>C
NM_006929.5:c.3629T>C MANE Select	NP_008860.4:p.Leu1210Pro