Canonical Allele Identifier: CA363491006

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937323C>T (hg19) ; chr6:g.31969546C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969546C>T , CM000668.2:g.31969546C>T	GRCh38
NC_000006.11:g.31937323C>T , CM000668.1:g.31937323C>T	GRCh37
NC_000006.10:g.32045302C>T	NCBI36
NG_032652.1:g.15743C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2620C>T	ENSP00000419905.1:n.*2620C>T
ENST00000485349.6:n.4048C>T
ENST00000491994.2:c.*114C>T	ENSP00000417586.2:n.*114C>T
ENST00000494058.6:n.3874C>T
ENST00000697831.1:c.3503C>T	ENSP00000513453.1:p.Thr1168Ile
ENST00000697832.1:n.3725C>T
ENST00000697833.1:c.*520C>T	ENSP00000513454.1:n.*520C>T
ENST00000697834.1:n.4290C>T
ENST00000697835.1:c.*3090C>T	ENSP00000513455.1:n.*3090C>T
ENST00000697836.1:n.3926C>T
ENST00000697837.1:c.*688C>T	ENSP00000513456.1:n.*688C>T
ENST00000697838.1:c.3437C>T	ENSP00000513457.1:p.Thr1146Ile
ENST00000697839.1:n.4384C>T
ENST00000697840.1:c.3608C>T	ENSP00000513458.1:p.Thr1203Ile
ENST00000697841.1:n.4483C>T
ENST00000697842.1:n.3827C>T
ENST00000375394.7:c.3572C>T MANE Select	ENSP00000364543.2:p.Thr1191Ile
ENST00000375394.6:c.3572C>T	ENSP00000364543.2:p.Thr1191Ile
ENST00000465703.5:n.4302C>T
ENST00000470453.1:n.414C>T
ENST00000471818.1:n.501C>T
ENST00000474839.5:c.*2944C>T	ENSP00000420470.1:n.*2944C>T
ENST00000483553.5:c.1102C>T
ENST00000491994.1:c.661C>T
NM_006929.4:c.3572C>T	NP_008860.4:p.Thr1191Ile
XR_926301.3:n.3588C>T
NM_006929.5:c.3572C>T MANE Select	NP_008860.4:p.Thr1191Ile