Canonical Allele Identifier: CA363491235

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937349A>T (hg19) ; chr6:g.31969572A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969572A>T , CM000668.2:g.31969572A>T	GRCh38
NC_000006.11:g.31937349A>T , CM000668.1:g.31937349A>T	GRCh37
NC_000006.10:g.32045328A>T	NCBI36
NG_032652.1:g.15769A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2646A>T	ENSP00000419905.1:n.*2646A>T
ENST00000485349.6:n.4074A>T
ENST00000491994.2:c.*140A>T	ENSP00000417586.2:n.*140A>T
ENST00000494058.6:n.3900A>T
ENST00000697831.1:c.3529A>T	ENSP00000513453.1:p.Ile1177Phe
ENST00000697832.1:n.3751A>T
ENST00000697833.1:c.*546A>T	ENSP00000513454.1:n.*546A>T
ENST00000697834.1:n.4316A>T
ENST00000697835.1:c.*3116A>T	ENSP00000513455.1:n.*3116A>T
ENST00000697836.1:n.3952A>T
ENST00000697837.1:c.*714A>T	ENSP00000513456.1:n.*714A>T
ENST00000697838.1:c.3463A>T	ENSP00000513457.1:p.Ile1155Phe
ENST00000697839.1:n.4410A>T
ENST00000697840.1:c.3634A>T	ENSP00000513458.1:p.Ile1212Phe
ENST00000697841.1:n.4509A>T
ENST00000697842.1:n.3853A>T
ENST00000375394.7:c.3598A>T MANE Select	ENSP00000364543.2:p.Ile1200Phe
ENST00000375394.6:c.3598A>T	ENSP00000364543.2:p.Ile1200Phe
ENST00000465703.5:n.4328A>T
ENST00000470453.1:n.440A>T
ENST00000471818.1:n.527A>T
ENST00000474839.5:c.*2970A>T	ENSP00000420470.1:n.*2970A>T
ENST00000483553.5:c.1128A>T
ENST00000491994.1:c.687A>T
NM_006929.4:c.3598A>T	NP_008860.4:p.Ile1200Phe
XR_926301.3:n.3614A>T
NM_006929.5:c.3598A>T MANE Select	NP_008860.4:p.Ile1200Phe