Canonical Allele Identifier: CA363490073

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937155T>A (hg19) ; chr6:g.31969378T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969378T>A , CM000668.2:g.31969378T>A	GRCh38
NC_000006.11:g.31937155T>A , CM000668.1:g.31937155T>A	GRCh37
NC_000006.10:g.32045134T>A	NCBI36
NG_032652.1:g.15575T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2452T>A	ENSP00000419905.1:n.*2452T>A
ENST00000483553.6:c.*465T>A	ENSP00000420332.2:n.*465T>A
ENST00000485349.6:n.3974T>A
ENST00000491994.2:c.3498T>A	ENSP00000417586.2:p.Asn1166Lys
ENST00000494058.6:n.3800T>A
ENST00000697831.1:c.3429T>A	ENSP00000513453.1:p.Asn1143Lys
ENST00000697832.1:n.3651T>A
ENST00000697833.1:c.*446T>A	ENSP00000513454.1:n.*446T>A
ENST00000697834.1:n.4122T>A
ENST00000697835.1:c.*3016T>A	ENSP00000513455.1:n.*3016T>A
ENST00000697836.1:n.3829T>A
ENST00000697837.1:c.*614T>A	ENSP00000513456.1:n.*614T>A
ENST00000697838.1:c.3363T>A	ENSP00000513457.1:p.Asn1121Lys
ENST00000697839.1:n.4216T>A
ENST00000697840.1:c.3534T>A	ENSP00000513458.1:p.Asn1178Lys
ENST00000697841.1:n.4315T>A
ENST00000697842.1:n.3753T>A
ENST00000375394.7:c.3498T>A MANE Select	ENSP00000364543.2:p.Asn1166Lys
ENST00000375394.6:c.3498T>A	ENSP00000364543.2:p.Asn1166Lys
ENST00000465703.5:n.4134T>A
ENST00000470453.1:n.382+62T>A
ENST00000471818.1:n.427T>A
ENST00000474839.5:c.*2870T>A	ENSP00000420470.1:n.*2870T>A
ENST00000483553.5:c.934T>A
ENST00000485349.5:n.704T>A
ENST00000491994.1:c.493T>A
NM_006929.4:c.3498T>A	NP_008860.4:p.Asn1166Lys
XR_001743586.2:n.3597T>A
XR_926301.3:n.3514T>A
NM_006929.5:c.3498T>A MANE Select	NP_008860.4:p.Asn1166Lys