Canonical Allele Identifier: CA363492550

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937477C>G (hg19) ; chr6:g.31969700C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969700C>G , CM000668.2:g.31969700C>G	GRCh38
NC_000006.11:g.31937477C>G , CM000668.1:g.31937477C>G	GRCh37
NC_000006.10:g.32045456C>G	NCBI36
NG_032652.1:g.15897C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2774C>G	ENSP00000419905.1:n.*2774C>G
ENST00000485349.6:n.4202C>G
ENST00000491994.2:c.*268C>G	ENSP00000417586.2:n.*268C>G
ENST00000494058.6:n.4028C>G
ENST00000697831.1:c.3657C>G	ENSP00000513453.1:p.Ser1219Arg
ENST00000697832.1:n.3879C>G
ENST00000697834.1:n.4444C>G
ENST00000697835.1:c.*3244C>G	ENSP00000513455.1:n.*3244C>G
ENST00000697837.1:c.*842C>G	ENSP00000513456.1:n.*842C>G
ENST00000697838.1:c.3591C>G	ENSP00000513457.1:p.Ser1197Arg
ENST00000697839.1:n.4538C>G
ENST00000697840.1:c.3762C>G	ENSP00000513458.1:p.Ser1254Arg
ENST00000697841.1:n.4637C>G
ENST00000697842.1:n.3981C>G
ENST00000375394.7:c.3726C>G MANE Select	ENSP00000364543.2:p.Ser1242Arg
ENST00000375394.6:c.3726C>G	ENSP00000364543.2:p.Ser1242Arg
ENST00000465703.5:n.4456C>G
ENST00000471818.1:n.655C>G
ENST00000474839.5:c.*3098C>G	ENSP00000420470.1:n.*3098C>G
ENST00000483553.5:c.1256C>G
ENST00000491994.1:c.815C>G
NM_006929.4:c.3726C>G	NP_008860.4:p.Ser1242Arg
XR_926301.3:n.3742C>G
NM_006929.5:c.3726C>G MANE Select	NP_008860.4:p.Ser1242Arg