Canonical Allele Identifier: CA3729103

Gene: SKIC2

Linked Data

• ClinVar Variation Id: 356313
• ClinVar RCV Id: RCV000288859 ; RCV001520037
• dbSNP Id: rs11541400
• ExAC: 6:31928039 C / G
• gnomAD v2: 6-31928039-C-G
• gnomAD v3: 6-31960262-C-G
• gnomAD v4: 6-31960262-C-G
• MyVariant Identifiers: chr6:g.31928039C>G (hg19) ; chr6:g.31960262C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31960262C>G , CM000668.2:g.31960262C>G	GRCh38
NC_000006.11:g.31928039C>G , CM000668.1:g.31928039C>G	GRCh37
NC_000006.10:g.32036018C>G	NCBI36
NG_032652.1:g.6459C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461073.6:c.279C>G	ENSP00000419905.1:p.Val93=
ENST00000483553.6:c.279C>G	ENSP00000420332.2:p.Val93=
ENST00000485349.6:n.320C>G
ENST00000491994.2:c.279C>G	ENSP00000417586.2:p.Val93=
ENST00000494058.6:n.336C>G
ENST00000697831.1:c.279C>G	ENSP00000513453.1:p.Val93=
ENST00000697832.1:n.355C>G
ENST00000697833.1:c.279C>G	ENSP00000513454.1:p.Val93=
ENST00000697834.1:n.331C>G
ENST00000697835.1:c.298C>G	ENSP00000513455.1:p.Pro100Ala
ENST00000697836.1:n.315C>G
ENST00000697837.1:c.279C>G	ENSP00000513456.1:p.Val93=
ENST00000697838.1:c.144C>G	ENSP00000513457.1:p.Val48=
ENST00000697839.1:n.301C>G
ENST00000697840.1:c.279C>G	ENSP00000513458.1:p.Val93=
ENST00000697841.1:n.290C>G
ENST00000697842.1:n.279C>G
ENST00000375394.7:c.279C>G MANE Select	ENSP00000364543.2:p.Val93=
ENST00000375394.6:c.279C>G	ENSP00000364543.2:p.Val93=
ENST00000461073.5:c.279C>G	ENSP00000419905.1:p.Val93=
ENST00000465703.5:n.331C>G
ENST00000474839.5:c.127-779C>G	ENSP00000420470.1:n.127-779C>G
ENST00000488648.5:n.355C>G
ENST00000628157.1:c.127-779C>G	ENSP00000485707.1:n.127-779C>G
NM_006929.4:c.279C>G	NP_008860.4:p.Val93=
XM_006715168.2:c.279C>G	XP_006715231.1:p.Val93=
XM_011514815.1:c.279C>G	XP_011513117.1:p.Val93=
XR_926301.1:n.367C>G
XM_011514815.3:c.279C>G	XP_011513117.1:p.Val93=
XR_001743586.2:n.315C>G
XR_926301.3:n.315C>G
NM_006929.5:c.279C>G MANE Select	NP_008860.4:p.Val93=