Canonical Allele Identifier: CA363489841

Gene: SKIC2

Linked Data

• ClinVar Variation Id: 1061798
• ClinVar RCV Id: RCV001371446
• dbSNP Id: rs1445290831
• gnomAD v3: 6-31969344-A-G
• gnomAD v4: 6-31969344-A-G
• MyVariant Identifiers: chr6:g.31937121A>G (hg19) ; chr6:g.31969344A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969344A>G , CM000668.2:g.31969344A>G	GRCh38
NC_000006.11:g.31937121A>G , CM000668.1:g.31937121A>G	GRCh37
NC_000006.10:g.32045100A>G	NCBI36
NG_032652.1:g.15541A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2418A>G	ENSP00000419905.1:n.*2418A>G
ENST00000483553.6:c.*431A>G	ENSP00000420332.2:n.*431A>G
ENST00000485349.6:n.3940A>G
ENST00000491994.2:c.3464A>G	ENSP00000417586.2:p.Asn1155Ser
ENST00000494058.6:n.3766A>G
ENST00000697831.1:c.3395A>G	ENSP00000513453.1:p.Asn1132Ser
ENST00000697832.1:n.3617A>G
ENST00000697833.1:c.*412A>G	ENSP00000513454.1:n.*412A>G
ENST00000697834.1:n.4088A>G
ENST00000697835.1:c.*2982A>G	ENSP00000513455.1:n.*2982A>G
ENST00000697836.1:n.3795A>G
ENST00000697837.1:c.*580A>G	ENSP00000513456.1:n.*580A>G
ENST00000697838.1:c.3329A>G	ENSP00000513457.1:p.Asn1110Ser
ENST00000697839.1:n.4182A>G
ENST00000697840.1:c.3500A>G	ENSP00000513458.1:p.Asn1167Ser
ENST00000697841.1:n.4281A>G
ENST00000697842.1:n.3719A>G
ENST00000375394.7:c.3464A>G MANE Select	ENSP00000364543.2:p.Asn1155Ser
ENST00000375394.6:c.3464A>G	ENSP00000364543.2:p.Asn1155Ser
ENST00000465703.5:n.4100A>G
ENST00000470453.1:n.382+28A>G
ENST00000471818.1:n.393A>G
ENST00000474839.5:c.*2836A>G	ENSP00000420470.1:n.*2836A>G
ENST00000483553.5:c.900A>G
ENST00000485349.5:n.670A>G
ENST00000491994.1:c.459A>G
NM_006929.4:c.3464A>G	NP_008860.4:p.Asn1155Ser
XR_001743586.2:n.3563A>G
XR_926301.3:n.3480A>G
NM_006929.5:c.3464A>G MANE Select	NP_008860.4:p.Asn1155Ser