Canonical Allele Identifier: CA363492542

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937476G>T (hg19) ; chr6:g.31969699G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969699G>T , CM000668.2:g.31969699G>T	GRCh38
NC_000006.11:g.31937476G>T , CM000668.1:g.31937476G>T	GRCh37
NC_000006.10:g.32045455G>T	NCBI36
NG_032652.1:g.15896G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2773G>T	ENSP00000419905.1:n.*2773G>T
ENST00000485349.6:n.4201G>T
ENST00000491994.2:c.*267G>T	ENSP00000417586.2:n.*267G>T
ENST00000494058.6:n.4027G>T
ENST00000697831.1:c.3656G>T	ENSP00000513453.1:p.Ser1219Ile
ENST00000697832.1:n.3878G>T
ENST00000697834.1:n.4443G>T
ENST00000697835.1:c.*3243G>T	ENSP00000513455.1:n.*3243G>T
ENST00000697837.1:c.*841G>T	ENSP00000513456.1:n.*841G>T
ENST00000697838.1:c.3590G>T	ENSP00000513457.1:p.Ser1197Ile
ENST00000697839.1:n.4537G>T
ENST00000697840.1:c.3761G>T	ENSP00000513458.1:p.Ser1254Ile
ENST00000697841.1:n.4636G>T
ENST00000697842.1:n.3980G>T
ENST00000375394.7:c.3725G>T MANE Select	ENSP00000364543.2:p.Ser1242Ile
ENST00000375394.6:c.3725G>T	ENSP00000364543.2:p.Ser1242Ile
ENST00000465703.5:n.4455G>T
ENST00000471818.1:n.654G>T
ENST00000474839.5:c.*3097G>T	ENSP00000420470.1:n.*3097G>T
ENST00000483553.5:c.1255G>T
ENST00000491994.1:c.814G>T
NM_006929.4:c.3725G>T	NP_008860.4:p.Ser1242Ile
XR_926301.3:n.3741G>T
NM_006929.5:c.3725G>T MANE Select	NP_008860.4:p.Ser1242Ile