Canonical Allele Identifier: CA363491164

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937341T>C (hg19) ; chr6:g.31969564T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969564T>C , CM000668.2:g.31969564T>C	GRCh38
NC_000006.11:g.31937341T>C , CM000668.1:g.31937341T>C	GRCh37
NC_000006.10:g.32045320T>C	NCBI36
NG_032652.1:g.15761T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2638T>C	ENSP00000419905.1:n.*2638T>C
ENST00000485349.6:n.4066T>C
ENST00000491994.2:c.*132T>C	ENSP00000417586.2:n.*132T>C
ENST00000494058.6:n.3892T>C
ENST00000697831.1:c.3521T>C	ENSP00000513453.1:p.Val1174Ala
ENST00000697832.1:n.3743T>C
ENST00000697833.1:c.*538T>C	ENSP00000513454.1:n.*538T>C
ENST00000697834.1:n.4308T>C
ENST00000697835.1:c.*3108T>C	ENSP00000513455.1:n.*3108T>C
ENST00000697836.1:n.3944T>C
ENST00000697837.1:c.*706T>C	ENSP00000513456.1:n.*706T>C
ENST00000697838.1:c.3455T>C	ENSP00000513457.1:p.Val1152Ala
ENST00000697839.1:n.4402T>C
ENST00000697840.1:c.3626T>C	ENSP00000513458.1:p.Val1209Ala
ENST00000697841.1:n.4501T>C
ENST00000697842.1:n.3845T>C
ENST00000375394.7:c.3590T>C MANE Select	ENSP00000364543.2:p.Val1197Ala
ENST00000375394.6:c.3590T>C	ENSP00000364543.2:p.Val1197Ala
ENST00000465703.5:n.4320T>C
ENST00000470453.1:n.432T>C
ENST00000471818.1:n.519T>C
ENST00000474839.5:c.*2962T>C	ENSP00000420470.1:n.*2962T>C
ENST00000483553.5:c.1120T>C
ENST00000491994.1:c.679T>C
NM_006929.4:c.3590T>C	NP_008860.4:p.Val1197Ala
XR_926301.3:n.3606T>C
NM_006929.5:c.3590T>C MANE Select	NP_008860.4:p.Val1197Ala