Canonical Allele Identifier: CA363492721

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937492A>G (hg19) ; chr6:g.31969715A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969715A>G , CM000668.2:g.31969715A>G	GRCh38
NC_000006.11:g.31937492A>G , CM000668.1:g.31937492A>G	GRCh37
NC_000006.10:g.32045471A>G	NCBI36
NG_032652.1:g.15912A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2789A>G	ENSP00000419905.1:n.*2789A>G
ENST00000485349.6:n.4217A>G
ENST00000491994.2:c.*283A>G	ENSP00000417586.2:n.*283A>G
ENST00000494058.6:n.4043A>G
ENST00000697831.1:c.3672A>G	ENSP00000513453.1:p.Ter1224Trp
ENST00000697832.1:n.3894A>G
ENST00000697834.1:n.4459A>G
ENST00000697835.1:c.*3259A>G	ENSP00000513455.1:n.*3259A>G
ENST00000697837.1:c.*857A>G	ENSP00000513456.1:n.*857A>G
ENST00000697838.1:c.3606A>G	ENSP00000513457.1:p.Ter1202Trp
ENST00000697839.1:n.4553A>G
ENST00000697840.1:c.3777A>G	ENSP00000513458.1:p.Ter1259Trp
ENST00000697841.1:n.4652A>G
ENST00000697842.1:n.3996A>G
ENST00000375394.7:c.3741A>G MANE Select	ENSP00000364543.2:p.Ter1247Trp
ENST00000375394.6:c.3741A>G	ENSP00000364543.2:p.Ter1247Trp
ENST00000465703.5:n.4471A>G
ENST00000471818.1:n.670A>G
ENST00000474839.5:c.*3113A>G	ENSP00000420470.1:n.*3113A>G
ENST00000483553.5:c.1271A>G
ENST00000491994.1:c.830A>G
NM_006929.4:c.3741A>G	NP_008860.4:p.Ter1247Trp
XR_926301.3:n.3757A>G
NM_006929.5:c.3741A>G MANE Select	NP_008860.4:p.Ter1247Trp