Canonical Allele Identifier: CA363490448

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937195A>C (hg19) ; chr6:g.31969418A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969418A>C , CM000668.2:g.31969418A>C	GRCh38
NC_000006.11:g.31937195A>C , CM000668.1:g.31937195A>C	GRCh37
NC_000006.10:g.32045174A>C	NCBI36
NG_032652.1:g.15615A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2492A>C	ENSP00000419905.1:n.*2492A>C
ENST00000483553.6:c.*505A>C	ENSP00000420332.2:n.*505A>C
ENST00000485349.6:n.4014A>C
ENST00000491994.2:c.3538A>C	ENSP00000417586.2:p.Met1180Leu
ENST00000494058.6:n.3840A>C
ENST00000697831.1:c.3469A>C	ENSP00000513453.1:p.Met1157Leu
ENST00000697832.1:n.3691A>C
ENST00000697833.1:c.*486A>C	ENSP00000513454.1:n.*486A>C
ENST00000697834.1:n.4162A>C
ENST00000697835.1:c.*3056A>C	ENSP00000513455.1:n.*3056A>C
ENST00000697836.1:n.3869A>C
ENST00000697837.1:c.*654A>C	ENSP00000513456.1:n.*654A>C
ENST00000697838.1:c.3403A>C	ENSP00000513457.1:p.Met1135Leu
ENST00000697839.1:n.4256A>C
ENST00000697840.1:c.3574A>C	ENSP00000513458.1:p.Met1192Leu
ENST00000697841.1:n.4355A>C
ENST00000697842.1:n.3793A>C
ENST00000375394.7:c.3538A>C MANE Select	ENSP00000364543.2:p.Met1180Leu
ENST00000375394.6:c.3538A>C	ENSP00000364543.2:p.Met1180Leu
ENST00000465703.5:n.4174A>C
ENST00000470453.1:n.383-97A>C
ENST00000471818.1:n.467A>C
ENST00000474839.5:c.*2910A>C	ENSP00000420470.1:n.*2910A>C
ENST00000483553.5:c.974A>C
ENST00000491994.1:c.533A>C
NM_006929.4:c.3538A>C	NP_008860.4:p.Met1180Leu
XR_001743586.2:n.3637A>C
XR_926301.3:n.3554A>C
NM_006929.5:c.3538A>C MANE Select	NP_008860.4:p.Met1180Leu