Canonical Allele Identifier: CA363490584

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937290A>C (hg19) ; chr6:g.31969513A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969513A>C , CM000668.2:g.31969513A>C	GRCh38
NC_000006.11:g.31937290A>C , CM000668.1:g.31937290A>C	GRCh37
NC_000006.10:g.32045269A>C	NCBI36
NG_032652.1:g.15710A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2587A>C	ENSP00000419905.1:n.*2587A>C
ENST00000485349.6:n.4017-2A>C
ENST00000491994.2:c.*81A>C	ENSP00000417586.2:n.*81A>C
ENST00000494058.6:n.3843-2A>C
ENST00000697831.1:c.3472-2A>C	ENSP00000513453.1:n.3472-2A>C
ENST00000697832.1:n.3694-2A>C
ENST00000697833.1:c.*489-2A>C	ENSP00000513454.1:n.*489-2A>C
ENST00000697834.1:n.4257A>C
ENST00000697835.1:c.*3059-2A>C	ENSP00000513455.1:n.*3059-2A>C
ENST00000697836.1:n.3893A>C
ENST00000697837.1:c.*657-2A>C	ENSP00000513456.1:n.*657-2A>C
ENST00000697838.1:c.3406-2A>C	ENSP00000513457.1:n.3406-2A>C
ENST00000697839.1:n.4351A>C
ENST00000697840.1:c.3577-2A>C	ENSP00000513458.1:n.3577-2A>C
ENST00000697841.1:n.4450A>C
ENST00000697842.1:n.3796-2A>C
ENST00000375394.7:c.3541-2A>C MANE Select	ENSP00000364543.2:n.3541-2A>C
ENST00000375394.6:c.3541-2A>C	ENSP00000364543.2:n.3541-2A>C
ENST00000465703.5:n.4269A>C
ENST00000470453.1:n.383-2A>C
ENST00000471818.1:n.470-2A>C
ENST00000474839.5:c.*2913-2A>C	ENSP00000420470.1:n.*2913-2A>C
ENST00000483553.5:c.1069A>C
ENST00000491994.1:c.628A>C
NM_006929.4:c.3541-2A>C	NP_008860.4:n.3541-2A>C
XR_926301.3:n.3557-2A>C
NM_006929.5:c.3541-2A>C MANE Select	NP_008860.4:n.3541-2A>C