Canonical Allele Identifier: CA449814082

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937327T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969550T>C , CM000668.2:g.31969550T>C	GRCh38
NC_000006.11:g.31937327T>C , CM000668.1:g.31937327T>C	GRCh37
NC_000006.10:g.32045306T>C	NCBI36
NG_032652.1:g.15747T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2624T>C	ENSP00000419905.1:n.*2624T>C
ENST00000485349.6:n.4052T>C
ENST00000491994.2:c.*118T>C	ENSP00000417586.2:n.*118T>C
ENST00000494058.6:n.3878T>C
ENST00000697831.1:c.3507T>C	ENSP00000513453.1:p.Pro1169=
ENST00000697832.1:n.3729T>C
ENST00000697833.1:c.*524T>C	ENSP00000513454.1:n.*524T>C
ENST00000697834.1:n.4294T>C
ENST00000697835.1:c.*3094T>C	ENSP00000513455.1:n.*3094T>C
ENST00000697836.1:n.3930T>C
ENST00000697837.1:c.*692T>C	ENSP00000513456.1:n.*692T>C
ENST00000697838.1:c.3441T>C	ENSP00000513457.1:p.Pro1147=
ENST00000697839.1:n.4388T>C
ENST00000697840.1:c.3612T>C	ENSP00000513458.1:p.Pro1204=
ENST00000697841.1:n.4487T>C
ENST00000697842.1:n.3831T>C
ENST00000375394.7:c.3576T>C MANE Select	ENSP00000364543.2:p.Pro1192=
ENST00000375394.6:c.3576T>C	ENSP00000364543.2:p.Pro1192=
ENST00000465703.5:n.4306T>C
ENST00000470453.1:n.418T>C
ENST00000471818.1:n.505T>C
ENST00000474839.5:c.*2948T>C	ENSP00000420470.1:n.*2948T>C
ENST00000483553.5:c.1106T>C
ENST00000491994.1:c.665T>C
NM_006929.4:c.3576T>C	NP_008860.4:p.Pro1192=
XR_926301.3:n.3592T>C
NM_006929.5:c.3576T>C MANE Select	NP_008860.4:p.Pro1192=