Canonical Allele Identifier: CA363492676

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937489G>T (hg19) ; chr6:g.31969712G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969712G>T , CM000668.2:g.31969712G>T	GRCh38
NC_000006.11:g.31937489G>T , CM000668.1:g.31937489G>T	GRCh37
NC_000006.10:g.32045468G>T	NCBI36
NG_032652.1:g.15909G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2786G>T	ENSP00000419905.1:n.*2786G>T
ENST00000485349.6:n.4214G>T
ENST00000491994.2:c.*280G>T	ENSP00000417586.2:n.*280G>T
ENST00000494058.6:n.4040G>T
ENST00000697831.1:c.3669G>T	ENSP00000513453.1:p.Gln1223His
ENST00000697832.1:n.3891G>T
ENST00000697834.1:n.4456G>T
ENST00000697835.1:c.*3256G>T	ENSP00000513455.1:n.*3256G>T
ENST00000697837.1:c.*854G>T	ENSP00000513456.1:n.*854G>T
ENST00000697838.1:c.3603G>T	ENSP00000513457.1:p.Gln1201His
ENST00000697839.1:n.4550G>T
ENST00000697840.1:c.3774G>T	ENSP00000513458.1:p.Gln1258His
ENST00000697841.1:n.4649G>T
ENST00000697842.1:n.3993G>T
ENST00000375394.7:c.3738G>T MANE Select	ENSP00000364543.2:p.Gln1246His
ENST00000375394.6:c.3738G>T	ENSP00000364543.2:p.Gln1246His
ENST00000465703.5:n.4468G>T
ENST00000471818.1:n.667G>T
ENST00000474839.5:c.*3110G>T	ENSP00000420470.1:n.*3110G>T
ENST00000483553.5:c.1268G>T
ENST00000491994.1:c.827G>T
NM_006929.4:c.3738G>T	NP_008860.4:p.Gln1246His
XR_926301.3:n.3754G>T
NM_006929.5:c.3738G>T MANE Select	NP_008860.4:p.Gln1246His