Canonical Allele Identifier: CA363492694

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937491G>T (hg19) ; chr6:g.31969714G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969714G>T , CM000668.2:g.31969714G>T	GRCh38
NC_000006.11:g.31937491G>T , CM000668.1:g.31937491G>T	GRCh37
NC_000006.10:g.32045470G>T	NCBI36
NG_032652.1:g.15911G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2788G>T	ENSP00000419905.1:n.*2788G>T
ENST00000485349.6:n.4216G>T
ENST00000491994.2:c.*282G>T	ENSP00000417586.2:n.*282G>T
ENST00000494058.6:n.4042G>T
ENST00000697831.1:c.3671G>T	ENSP00000513453.1:p.Ter1224Leu
ENST00000697832.1:n.3893G>T
ENST00000697834.1:n.4458G>T
ENST00000697835.1:c.*3258G>T	ENSP00000513455.1:n.*3258G>T
ENST00000697837.1:c.*856G>T	ENSP00000513456.1:n.*856G>T
ENST00000697838.1:c.3605G>T	ENSP00000513457.1:p.Ter1202Leu
ENST00000697839.1:n.4552G>T
ENST00000697840.1:c.3776G>T	ENSP00000513458.1:p.Ter1259Leu
ENST00000697841.1:n.4651G>T
ENST00000697842.1:n.3995G>T
ENST00000375394.7:c.3740G>T MANE Select	ENSP00000364543.2:p.Ter1247Leu
ENST00000375394.6:c.3740G>T	ENSP00000364543.2:p.Ter1247Leu
ENST00000465703.5:n.4470G>T
ENST00000471818.1:n.669G>T
ENST00000474839.5:c.*3112G>T	ENSP00000420470.1:n.*3112G>T
ENST00000483553.5:c.1270G>T
ENST00000491994.1:c.829G>T
NM_006929.4:c.3740G>T	NP_008860.4:p.Ter1247Leu
XR_926301.3:n.3756G>T
NM_006929.5:c.3740G>T MANE Select	NP_008860.4:p.Ter1247Leu