Canonical Allele Identifier: CA363490263

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937175T>C (hg19) ; chr6:g.31969398T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969398T>C , CM000668.2:g.31969398T>C	GRCh38
NC_000006.11:g.31937175T>C , CM000668.1:g.31937175T>C	GRCh37
NC_000006.10:g.32045154T>C	NCBI36
NG_032652.1:g.15595T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2472T>C	ENSP00000419905.1:n.*2472T>C
ENST00000483553.6:c.*485T>C	ENSP00000420332.2:n.*485T>C
ENST00000485349.6:n.3994T>C
ENST00000491994.2:c.3518T>C	ENSP00000417586.2:p.Val1173Ala
ENST00000494058.6:n.3820T>C
ENST00000697831.1:c.3449T>C	ENSP00000513453.1:p.Val1150Ala
ENST00000697832.1:n.3671T>C
ENST00000697833.1:c.*466T>C	ENSP00000513454.1:n.*466T>C
ENST00000697834.1:n.4142T>C
ENST00000697835.1:c.*3036T>C	ENSP00000513455.1:n.*3036T>C
ENST00000697836.1:n.3849T>C
ENST00000697837.1:c.*634T>C	ENSP00000513456.1:n.*634T>C
ENST00000697838.1:c.3383T>C	ENSP00000513457.1:p.Val1128Ala
ENST00000697839.1:n.4236T>C
ENST00000697840.1:c.3554T>C	ENSP00000513458.1:p.Val1185Ala
ENST00000697841.1:n.4335T>C
ENST00000697842.1:n.3773T>C
ENST00000375394.7:c.3518T>C MANE Select	ENSP00000364543.2:p.Val1173Ala
ENST00000375394.6:c.3518T>C	ENSP00000364543.2:p.Val1173Ala
ENST00000465703.5:n.4154T>C
ENST00000470453.1:n.382+82T>C
ENST00000471818.1:n.447T>C
ENST00000474839.5:c.*2890T>C	ENSP00000420470.1:n.*2890T>C
ENST00000483553.5:c.954T>C
ENST00000485349.5:n.724T>C
ENST00000491994.1:c.513T>C
NM_006929.4:c.3518T>C	NP_008860.4:p.Val1173Ala
XR_001743586.2:n.3617T>C
XR_926301.3:n.3534T>C
NM_006929.5:c.3518T>C MANE Select	NP_008860.4:p.Val1173Ala