Canonical Allele Identifier: CA363490180

Gene: SKIC2

Linked Data

• dbSNP Id: rs1773030432
• gnomAD v3: 6-31969389-T-C
• gnomAD v4: 6-31969389-T-C
• MyVariant Identifiers: chr6:g.31937166T>C (hg19) ; chr6:g.31969389T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969389T>C , CM000668.2:g.31969389T>C	GRCh38
NC_000006.11:g.31937166T>C , CM000668.1:g.31937166T>C	GRCh37
NC_000006.10:g.32045145T>C	NCBI36
NG_032652.1:g.15586T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2463T>C	ENSP00000419905.1:n.*2463T>C
ENST00000483553.6:c.*476T>C	ENSP00000420332.2:n.*476T>C
ENST00000485349.6:n.3985T>C
ENST00000491994.2:c.3509T>C	ENSP00000417586.2:p.Val1170Ala
ENST00000494058.6:n.3811T>C
ENST00000697831.1:c.3440T>C	ENSP00000513453.1:p.Val1147Ala
ENST00000697832.1:n.3662T>C
ENST00000697833.1:c.*457T>C	ENSP00000513454.1:n.*457T>C
ENST00000697834.1:n.4133T>C
ENST00000697835.1:c.*3027T>C	ENSP00000513455.1:n.*3027T>C
ENST00000697836.1:n.3840T>C
ENST00000697837.1:c.*625T>C	ENSP00000513456.1:n.*625T>C
ENST00000697838.1:c.3374T>C	ENSP00000513457.1:p.Val1125Ala
ENST00000697839.1:n.4227T>C
ENST00000697840.1:c.3545T>C	ENSP00000513458.1:p.Val1182Ala
ENST00000697841.1:n.4326T>C
ENST00000697842.1:n.3764T>C
ENST00000375394.7:c.3509T>C MANE Select	ENSP00000364543.2:p.Val1170Ala
ENST00000375394.6:c.3509T>C	ENSP00000364543.2:p.Val1170Ala
ENST00000465703.5:n.4145T>C
ENST00000470453.1:n.382+73T>C
ENST00000471818.1:n.438T>C
ENST00000474839.5:c.*2881T>C	ENSP00000420470.1:n.*2881T>C
ENST00000483553.5:c.945T>C
ENST00000485349.5:n.715T>C
ENST00000491994.1:c.504T>C
NM_006929.4:c.3509T>C	NP_008860.4:p.Val1170Ala
XR_001743586.2:n.3608T>C
XR_926301.3:n.3525T>C
NM_006929.5:c.3509T>C MANE Select	NP_008860.4:p.Val1170Ala