Canonical Allele Identifier: CA363491134

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937337G>C (hg19) ; chr6:g.31969560G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969560G>C , CM000668.2:g.31969560G>C	GRCh38
NC_000006.11:g.31937337G>C , CM000668.1:g.31937337G>C	GRCh37
NC_000006.10:g.32045316G>C	NCBI36
NG_032652.1:g.15757G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2634G>C	ENSP00000419905.1:n.*2634G>C
ENST00000485349.6:n.4062G>C
ENST00000491994.2:c.*128G>C	ENSP00000417586.2:n.*128G>C
ENST00000494058.6:n.3888G>C
ENST00000697831.1:c.3517G>C	ENSP00000513453.1:p.Val1173Leu
ENST00000697832.1:n.3739G>C
ENST00000697833.1:c.*534G>C	ENSP00000513454.1:n.*534G>C
ENST00000697834.1:n.4304G>C
ENST00000697835.1:c.*3104G>C	ENSP00000513455.1:n.*3104G>C
ENST00000697836.1:n.3940G>C
ENST00000697837.1:c.*702G>C	ENSP00000513456.1:n.*702G>C
ENST00000697838.1:c.3451G>C	ENSP00000513457.1:p.Val1151Leu
ENST00000697839.1:n.4398G>C
ENST00000697840.1:c.3622G>C	ENSP00000513458.1:p.Val1208Leu
ENST00000697841.1:n.4497G>C
ENST00000697842.1:n.3841G>C
ENST00000375394.7:c.3586G>C MANE Select	ENSP00000364543.2:p.Val1196Leu
ENST00000375394.6:c.3586G>C	ENSP00000364543.2:p.Val1196Leu
ENST00000465703.5:n.4316G>C
ENST00000470453.1:n.428G>C
ENST00000471818.1:n.515G>C
ENST00000474839.5:c.*2958G>C	ENSP00000420470.1:n.*2958G>C
ENST00000483553.5:c.1116G>C
ENST00000491994.1:c.675G>C
NM_006929.4:c.3586G>C	NP_008860.4:p.Val1196Leu
XR_926301.3:n.3602G>C
NM_006929.5:c.3586G>C MANE Select	NP_008860.4:p.Val1196Leu