Canonical Allele Identifier: CA363490663

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937298T>C (hg19) ; chr6:g.31969521T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969521T>C , CM000668.2:g.31969521T>C	GRCh38
NC_000006.11:g.31937298T>C , CM000668.1:g.31937298T>C	GRCh37
NC_000006.10:g.32045277T>C	NCBI36
NG_032652.1:g.15718T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2595T>C	ENSP00000419905.1:n.*2595T>C
ENST00000485349.6:n.4023T>C
ENST00000491994.2:c.*89T>C	ENSP00000417586.2:n.*89T>C
ENST00000494058.6:n.3849T>C
ENST00000697831.1:c.3478T>C	ENSP00000513453.1:p.Ser1160Pro
ENST00000697832.1:n.3700T>C
ENST00000697833.1:c.*495T>C	ENSP00000513454.1:n.*495T>C
ENST00000697834.1:n.4265T>C
ENST00000697835.1:c.*3065T>C	ENSP00000513455.1:n.*3065T>C
ENST00000697836.1:n.3901T>C
ENST00000697837.1:c.*663T>C	ENSP00000513456.1:n.*663T>C
ENST00000697838.1:c.3412T>C	ENSP00000513457.1:p.Ser1138Pro
ENST00000697839.1:n.4359T>C
ENST00000697840.1:c.3583T>C	ENSP00000513458.1:p.Ser1195Pro
ENST00000697841.1:n.4458T>C
ENST00000697842.1:n.3802T>C
ENST00000375394.7:c.3547T>C MANE Select	ENSP00000364543.2:p.Ser1183Pro
ENST00000375394.6:c.3547T>C	ENSP00000364543.2:p.Ser1183Pro
ENST00000465703.5:n.4277T>C
ENST00000470453.1:n.389T>C
ENST00000471818.1:n.476T>C
ENST00000474839.5:c.*2919T>C	ENSP00000420470.1:n.*2919T>C
ENST00000483553.5:c.1077T>C
ENST00000491994.1:c.636T>C
NM_006929.4:c.3547T>C	NP_008860.4:p.Ser1183Pro
XR_926301.3:n.3563T>C
NM_006929.5:c.3547T>C MANE Select	NP_008860.4:p.Ser1183Pro