Canonical Allele Identifier: CA136906934

Gene: SKIC2

Linked Data

• dbSNP Id: rs746607453
• gnomAD v4: 6-31962493-C-G
• MyVariant Identifiers: chr6:g.31930270C>G (hg19) ; chr6:g.31962493C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31962493C>G , CM000668.2:g.31962493C>G	GRCh38
NC_000006.11:g.31930270C>G , CM000668.1:g.31930270C>G	GRCh37
NC_000006.10:g.32038249C>G	NCBI36
NG_032652.1:g.8690C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*235C>G	ENSP00000419905.1:n.*235C>G
ENST00000483553.6:c.1119C>G	ENSP00000420332.2:p.Phe373Leu
ENST00000485349.6:n.1160C>G
ENST00000491994.2:c.1119C>G	ENSP00000417586.2:p.Phe373Leu
ENST00000494058.6:n.1176C>G
ENST00000697831.1:c.1119C>G	ENSP00000513453.1:p.Phe373Leu
ENST00000697832.1:n.1195C>G
ENST00000697833.1:c.1119C>G	ENSP00000513454.1:p.Phe373Leu
ENST00000697834.1:n.1171C>G
ENST00000697835.1:c.*637C>G	ENSP00000513455.1:n.*637C>G
ENST00000697836.1:n.1155C>G
ENST00000697837.1:c.1119C>G	ENSP00000513456.1:p.Phe373Leu
ENST00000697838.1:c.984C>G	ENSP00000513457.1:p.Phe328Leu
ENST00000697839.1:n.1402C>G
ENST00000697840.1:c.1155C>G	ENSP00000513458.1:p.Phe385Leu
ENST00000697841.1:n.1691C>G
ENST00000697842.1:n.1119C>G
ENST00000375394.7:c.1119C>G MANE Select	ENSP00000364543.2:p.Phe373Leu
ENST00000375394.6:c.1119C>G	ENSP00000364543.2:p.Phe373Leu
ENST00000461073.5:c.*235C>G	ENSP00000419905.1:n.*235C>G
ENST00000465703.5:n.1432C>G
ENST00000466290.1:n.380C>G
ENST00000474839.5:c.*491C>G	ENSP00000420470.1:n.*491C>G
NM_006929.4:c.1119C>G	NP_008860.4:p.Phe373Leu
XM_006715168.2:c.1119C>G	XP_006715231.1:p.Phe373Leu
XM_011514815.1:c.1119C>G	XP_011513117.1:p.Phe373Leu
XR_926301.1:n.1207C>G
XM_011514815.3:c.1119C>G	XP_011513117.1:p.Phe373Leu
XR_001743586.2:n.1155C>G
XR_926301.3:n.1155C>G
NM_006929.5:c.1119C>G MANE Select	NP_008860.4:p.Phe373Leu