Canonical Allele Identifier: CA363490283

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937178A>C (hg19) ; chr6:g.31969401A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969401A>C , CM000668.2:g.31969401A>C	GRCh38
NC_000006.11:g.31937178A>C , CM000668.1:g.31937178A>C	GRCh37
NC_000006.10:g.32045157A>C	NCBI36
NG_032652.1:g.15598A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2475A>C	ENSP00000419905.1:n.*2475A>C
ENST00000483553.6:c.*488A>C	ENSP00000420332.2:n.*488A>C
ENST00000485349.6:n.3997A>C
ENST00000491994.2:c.3521A>C	ENSP00000417586.2:p.Tyr1174Ser
ENST00000494058.6:n.3823A>C
ENST00000697831.1:c.3452A>C	ENSP00000513453.1:p.Tyr1151Ser
ENST00000697832.1:n.3674A>C
ENST00000697833.1:c.*469A>C	ENSP00000513454.1:n.*469A>C
ENST00000697834.1:n.4145A>C
ENST00000697835.1:c.*3039A>C	ENSP00000513455.1:n.*3039A>C
ENST00000697836.1:n.3852A>C
ENST00000697837.1:c.*637A>C	ENSP00000513456.1:n.*637A>C
ENST00000697838.1:c.3386A>C	ENSP00000513457.1:p.Tyr1129Ser
ENST00000697839.1:n.4239A>C
ENST00000697840.1:c.3557A>C	ENSP00000513458.1:p.Tyr1186Ser
ENST00000697841.1:n.4338A>C
ENST00000697842.1:n.3776A>C
ENST00000375394.7:c.3521A>C MANE Select	ENSP00000364543.2:p.Tyr1174Ser
ENST00000375394.6:c.3521A>C	ENSP00000364543.2:p.Tyr1174Ser
ENST00000465703.5:n.4157A>C
ENST00000470453.1:n.382+85A>C
ENST00000471818.1:n.450A>C
ENST00000474839.5:c.*2893A>C	ENSP00000420470.1:n.*2893A>C
ENST00000483553.5:c.957A>C
ENST00000485349.5:n.727A>C
ENST00000491994.1:c.516A>C
NM_006929.4:c.3521A>C	NP_008860.4:p.Tyr1174Ser
XR_001743586.2:n.3620A>C
XR_926301.3:n.3537A>C
NM_006929.5:c.3521A>C MANE Select	NP_008860.4:p.Tyr1174Ser