Canonical Allele Identifier: CA363490990

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937322A>T (hg19) ; chr6:g.31969545A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969545A>T , CM000668.2:g.31969545A>T	GRCh38
NC_000006.11:g.31937322A>T , CM000668.1:g.31937322A>T	GRCh37
NC_000006.10:g.32045301A>T	NCBI36
NG_032652.1:g.15742A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2619A>T	ENSP00000419905.1:n.*2619A>T
ENST00000485349.6:n.4047A>T
ENST00000491994.2:c.*113A>T	ENSP00000417586.2:n.*113A>T
ENST00000494058.6:n.3873A>T
ENST00000697831.1:c.3502A>T	ENSP00000513453.1:p.Thr1168Ser
ENST00000697832.1:n.3724A>T
ENST00000697833.1:c.*519A>T	ENSP00000513454.1:n.*519A>T
ENST00000697834.1:n.4289A>T
ENST00000697835.1:c.*3089A>T	ENSP00000513455.1:n.*3089A>T
ENST00000697836.1:n.3925A>T
ENST00000697837.1:c.*687A>T	ENSP00000513456.1:n.*687A>T
ENST00000697838.1:c.3436A>T	ENSP00000513457.1:p.Thr1146Ser
ENST00000697839.1:n.4383A>T
ENST00000697840.1:c.3607A>T	ENSP00000513458.1:p.Thr1203Ser
ENST00000697841.1:n.4482A>T
ENST00000697842.1:n.3826A>T
ENST00000375394.7:c.3571A>T MANE Select	ENSP00000364543.2:p.Thr1191Ser
ENST00000375394.6:c.3571A>T	ENSP00000364543.2:p.Thr1191Ser
ENST00000465703.5:n.4301A>T
ENST00000470453.1:n.413A>T
ENST00000471818.1:n.500A>T
ENST00000474839.5:c.*2943A>T	ENSP00000420470.1:n.*2943A>T
ENST00000483553.5:c.1101A>T
ENST00000491994.1:c.660A>T
NM_006929.4:c.3571A>T	NP_008860.4:p.Thr1191Ser
XR_926301.3:n.3587A>T
NM_006929.5:c.3571A>T MANE Select	NP_008860.4:p.Thr1191Ser