Canonical Allele Identifier: CA363491035

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937326C>G (hg19) ; chr6:g.31969549C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969549C>G , CM000668.2:g.31969549C>G	GRCh38
NC_000006.11:g.31937326C>G , CM000668.1:g.31937326C>G	GRCh37
NC_000006.10:g.32045305C>G	NCBI36
NG_032652.1:g.15746C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2623C>G	ENSP00000419905.1:n.*2623C>G
ENST00000485349.6:n.4051C>G
ENST00000491994.2:c.*117C>G	ENSP00000417586.2:n.*117C>G
ENST00000494058.6:n.3877C>G
ENST00000697831.1:c.3506C>G	ENSP00000513453.1:p.Pro1169Arg
ENST00000697832.1:n.3728C>G
ENST00000697833.1:c.*523C>G	ENSP00000513454.1:n.*523C>G
ENST00000697834.1:n.4293C>G
ENST00000697835.1:c.*3093C>G	ENSP00000513455.1:n.*3093C>G
ENST00000697836.1:n.3929C>G
ENST00000697837.1:c.*691C>G	ENSP00000513456.1:n.*691C>G
ENST00000697838.1:c.3440C>G	ENSP00000513457.1:p.Pro1147Arg
ENST00000697839.1:n.4387C>G
ENST00000697840.1:c.3611C>G	ENSP00000513458.1:p.Pro1204Arg
ENST00000697841.1:n.4486C>G
ENST00000697842.1:n.3830C>G
ENST00000375394.7:c.3575C>G MANE Select	ENSP00000364543.2:p.Pro1192Arg
ENST00000375394.6:c.3575C>G	ENSP00000364543.2:p.Pro1192Arg
ENST00000465703.5:n.4305C>G
ENST00000470453.1:n.417C>G
ENST00000471818.1:n.504C>G
ENST00000474839.5:c.*2947C>G	ENSP00000420470.1:n.*2947C>G
ENST00000483553.5:c.1105C>G
ENST00000491994.1:c.664C>G
NM_006929.4:c.3575C>G	NP_008860.4:p.Pro1192Arg
XR_926301.3:n.3591C>G
NM_006929.5:c.3575C>G MANE Select	NP_008860.4:p.Pro1192Arg