Canonical Allele Identifier: CA363490153

Gene: SKIC2

Linked Data

• dbSNP Id: rs1582191455
• gnomAD v4: 6-31969386-T-C
• MyVariant Identifiers: chr6:g.31937163T>C (hg19) ; chr6:g.31969386T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969386T>C , CM000668.2:g.31969386T>C	GRCh38
NC_000006.11:g.31937163T>C , CM000668.1:g.31937163T>C	GRCh37
NC_000006.10:g.32045142T>C	NCBI36
NG_032652.1:g.15583T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2460T>C	ENSP00000419905.1:n.*2460T>C
ENST00000483553.6:c.*473T>C	ENSP00000420332.2:n.*473T>C
ENST00000485349.6:n.3982T>C
ENST00000491994.2:c.3506T>C	ENSP00000417586.2:p.Leu1169Pro
ENST00000494058.6:n.3808T>C
ENST00000697831.1:c.3437T>C	ENSP00000513453.1:p.Leu1146Pro
ENST00000697832.1:n.3659T>C
ENST00000697833.1:c.*454T>C	ENSP00000513454.1:n.*454T>C
ENST00000697834.1:n.4130T>C
ENST00000697835.1:c.*3024T>C	ENSP00000513455.1:n.*3024T>C
ENST00000697836.1:n.3837T>C
ENST00000697837.1:c.*622T>C	ENSP00000513456.1:n.*622T>C
ENST00000697838.1:c.3371T>C	ENSP00000513457.1:p.Leu1124Pro
ENST00000697839.1:n.4224T>C
ENST00000697840.1:c.3542T>C	ENSP00000513458.1:p.Leu1181Pro
ENST00000697841.1:n.4323T>C
ENST00000697842.1:n.3761T>C
ENST00000375394.7:c.3506T>C MANE Select	ENSP00000364543.2:p.Leu1169Pro
ENST00000375394.6:c.3506T>C	ENSP00000364543.2:p.Leu1169Pro
ENST00000465703.5:n.4142T>C
ENST00000470453.1:n.382+70T>C
ENST00000471818.1:n.435T>C
ENST00000474839.5:c.*2878T>C	ENSP00000420470.1:n.*2878T>C
ENST00000483553.5:c.942T>C
ENST00000485349.5:n.712T>C
ENST00000491994.1:c.501T>C
NM_006929.4:c.3506T>C	NP_008860.4:p.Leu1169Pro
XR_001743586.2:n.3605T>C
XR_926301.3:n.3522T>C
NM_006929.5:c.3506T>C MANE Select	NP_008860.4:p.Leu1169Pro