Canonical Allele Identifier: CA3729305

Gene: SKIC2

Linked Data

• ClinVar Variation Id: 356322
• ClinVar RCV Id: RCV000300882 ; RCV002523564
• dbSNP Id: rs577271106
• ExAC: 6:31929721 C / T
• gnomAD v2: 6-31929721-C-T
• gnomAD v3: 6-31961944-C-T
• gnomAD v4: 6-31961944-C-T
• MyVariant Identifiers: chr6:g.31929721C>T (hg19) ; chr6:g.31961944C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31961944C>T , CM000668.2:g.31961944C>T	GRCh38
NC_000006.11:g.31929721C>T , CM000668.1:g.31929721C>T	GRCh37
NC_000006.10:g.32037700C>T	NCBI36
NG_032652.1:g.8141C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461073.6:c.*70C>T	ENSP00000419905.1:n.*70C>T
ENST00000483553.6:c.954C>T	ENSP00000420332.2:p.Ala318=
ENST00000485349.6:n.995C>T
ENST00000491994.2:c.954C>T	ENSP00000417586.2:p.Ala318=
ENST00000494058.6:n.1011C>T
ENST00000697831.1:c.954C>T	ENSP00000513453.1:p.Ala318=
ENST00000697832.1:n.1030C>T
ENST00000697833.1:c.954C>T	ENSP00000513454.1:p.Ala318=
ENST00000697834.1:n.1006C>T
ENST00000697835.1:c.*472C>T	ENSP00000513455.1:n.*472C>T
ENST00000697836.1:n.990C>T
ENST00000697837.1:c.954C>T	ENSP00000513456.1:p.Ala318=
ENST00000697838.1:c.819C>T	ENSP00000513457.1:p.Ala273=
ENST00000697839.1:n.1237C>T
ENST00000697840.1:c.990C>T	ENSP00000513458.1:p.Ala330=
ENST00000697841.1:n.1526C>T
ENST00000697842.1:n.954C>T
ENST00000375394.7:c.954C>T MANE Select	ENSP00000364543.2:p.Ala318=
ENST00000375394.6:c.954C>T	ENSP00000364543.2:p.Ala318=
ENST00000461073.5:c.*70C>T	ENSP00000419905.1:n.*70C>T
ENST00000465703.5:n.1267C>T
ENST00000466290.1:n.215C>T
ENST00000474839.5:c.*326C>T	ENSP00000420470.1:n.*326C>T
NM_006929.4:c.954C>T	NP_008860.4:p.Ala318=
XM_006715168.2:c.954C>T	XP_006715231.1:p.Ala318=
XM_011514815.1:c.954C>T	XP_011513117.1:p.Ala318=
XR_926301.1:n.1042C>T
XM_011514815.3:c.954C>T	XP_011513117.1:p.Ala318=
XR_001743586.2:n.990C>T
XR_926301.3:n.990C>T
NM_006929.5:c.954C>T MANE Select	NP_008860.4:p.Ala318=