Canonical Allele Identifier: CA2573140265

Gene: SKIC2

Linked Data

• ClinVar Variation Id: 1489677
• ClinVar RCV Id: RCV002001560
• dbSNP Id: rs2151817910
• gnomAD v4: 6-31969512-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969512C>T , CM000668.2:g.31969512C>T	GRCh38
NC_000006.11:g.31937289C>T , CM000668.1:g.31937289C>T	GRCh37
NC_000006.10:g.32045268C>T	NCBI36
NG_032652.1:g.15709C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2586C>T	ENSP00000419905.1:n.*2586C>T
ENST00000485349.6:n.4017-3C>T
ENST00000491994.2:c.*80C>T	ENSP00000417586.2:n.*80C>T
ENST00000494058.6:n.3843-3C>T
ENST00000697831.1:c.3472-3C>T	ENSP00000513453.1:n.3472-3C>T
ENST00000697832.1:n.3694-3C>T
ENST00000697833.1:c.*489-3C>T	ENSP00000513454.1:n.*489-3C>T
ENST00000697834.1:n.4256C>T
ENST00000697835.1:c.*3059-3C>T	ENSP00000513455.1:n.*3059-3C>T
ENST00000697836.1:n.3892C>T
ENST00000697837.1:c.*657-3C>T	ENSP00000513456.1:n.*657-3C>T
ENST00000697838.1:c.3406-3C>T	ENSP00000513457.1:n.3406-3C>T
ENST00000697839.1:n.4350C>T
ENST00000697840.1:c.3577-3C>T	ENSP00000513458.1:n.3577-3C>T
ENST00000697841.1:n.4449C>T
ENST00000697842.1:n.3796-3C>T
ENST00000375394.7:c.3541-3C>T MANE Select	ENSP00000364543.2:n.3541-3C>T
ENST00000375394.6:c.3541-3C>T	ENSP00000364543.2:n.3541-3C>T
ENST00000465703.5:n.4268C>T
ENST00000470453.1:n.383-3C>T
ENST00000471818.1:n.470-3C>T
ENST00000474839.5:c.*2913-3C>T	ENSP00000420470.1:n.*2913-3C>T
ENST00000483553.5:c.1068C>T
ENST00000491994.1:c.627C>T
NM_006929.4:c.3541-3C>T	NP_008860.4:n.3541-3C>T
XR_926301.3:n.3557-3C>T
NM_006929.5:c.3541-3C>T MANE Select	NP_008860.4:n.3541-3C>T