Canonical Allele Identifier: CA363492441

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937466T>A (hg19) ; chr6:g.31969689T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969689T>A , CM000668.2:g.31969689T>A	GRCh38
NC_000006.11:g.31937466T>A , CM000668.1:g.31937466T>A	GRCh37
NC_000006.10:g.32045445T>A	NCBI36
NG_032652.1:g.15886T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2763T>A	ENSP00000419905.1:n.*2763T>A
ENST00000485349.6:n.4191T>A
ENST00000491994.2:c.*257T>A	ENSP00000417586.2:n.*257T>A
ENST00000494058.6:n.4017T>A
ENST00000697831.1:c.3646T>A	ENSP00000513453.1:p.Phe1216Ile
ENST00000697832.1:n.3868T>A
ENST00000697834.1:n.4433T>A
ENST00000697835.1:c.*3233T>A	ENSP00000513455.1:n.*3233T>A
ENST00000697836.1:n.4069T>A
ENST00000697837.1:c.*831T>A	ENSP00000513456.1:n.*831T>A
ENST00000697838.1:c.3580T>A	ENSP00000513457.1:p.Phe1194Ile
ENST00000697839.1:n.4527T>A
ENST00000697840.1:c.3751T>A	ENSP00000513458.1:p.Phe1251Ile
ENST00000697841.1:n.4626T>A
ENST00000697842.1:n.3970T>A
ENST00000375394.7:c.3715T>A MANE Select	ENSP00000364543.2:p.Phe1239Ile
ENST00000375394.6:c.3715T>A	ENSP00000364543.2:p.Phe1239Ile
ENST00000465703.5:n.4445T>A
ENST00000471818.1:n.644T>A
ENST00000474839.5:c.*3087T>A	ENSP00000420470.1:n.*3087T>A
ENST00000483553.5:c.1245T>A
ENST00000491994.1:c.804T>A
NM_006929.4:c.3715T>A	NP_008860.4:p.Phe1239Ile
XR_926301.3:n.3731T>A
NM_006929.5:c.3715T>A MANE Select	NP_008860.4:p.Phe1239Ile