Canonical Allele Identifier: CA449814090

Gene: SKIC2

Linked Data

• ClinVar Variation Id: 1634395
• ClinVar RCV Id: RCV002142849
• dbSNP Id: rs2151818008
• gnomAD v4: 6-31969556-C-A
• MyVariant Identifiers: chr6:g.31937333C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969556C>A , CM000668.2:g.31969556C>A	GRCh38
NC_000006.11:g.31937333C>A , CM000668.1:g.31937333C>A	GRCh37
NC_000006.10:g.32045312C>A	NCBI36
NG_032652.1:g.15753C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2630C>A	ENSP00000419905.1:n.*2630C>A
ENST00000485349.6:n.4058C>A
ENST00000491994.2:c.*124C>A	ENSP00000417586.2:n.*124C>A
ENST00000494058.6:n.3884C>A
ENST00000697831.1:c.3513C>A	ENSP00000513453.1:p.Gly1171=
ENST00000697832.1:n.3735C>A
ENST00000697833.1:c.*530C>A	ENSP00000513454.1:n.*530C>A
ENST00000697834.1:n.4300C>A
ENST00000697835.1:c.*3100C>A	ENSP00000513455.1:n.*3100C>A
ENST00000697836.1:n.3936C>A
ENST00000697837.1:c.*698C>A	ENSP00000513456.1:n.*698C>A
ENST00000697838.1:c.3447C>A	ENSP00000513457.1:p.Gly1149=
ENST00000697839.1:n.4394C>A
ENST00000697840.1:c.3618C>A	ENSP00000513458.1:p.Gly1206=
ENST00000697841.1:n.4493C>A
ENST00000697842.1:n.3837C>A
ENST00000375394.7:c.3582C>A MANE Select	ENSP00000364543.2:p.Gly1194=
ENST00000375394.6:c.3582C>A	ENSP00000364543.2:p.Gly1194=
ENST00000465703.5:n.4312C>A
ENST00000470453.1:n.424C>A
ENST00000471818.1:n.511C>A
ENST00000474839.5:c.*2954C>A	ENSP00000420470.1:n.*2954C>A
ENST00000483553.5:c.1112C>A
ENST00000491994.1:c.671C>A
NM_006929.4:c.3582C>A	NP_008860.4:p.Gly1194=
XR_926301.3:n.3598C>A
NM_006929.5:c.3582C>A MANE Select	NP_008860.4:p.Gly1194=