Canonical Allele Identifier: CA449813813

Gene: SKIC2

Linked Data

• ClinVar Variation Id: 3012517
• ClinVar RCV Id: RCV003875644
• MyVariant Identifiers: chr6:g.31937113T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969336T>C , CM000668.2:g.31969336T>C	GRCh38
NC_000006.11:g.31937113T>C , CM000668.1:g.31937113T>C	GRCh37
NC_000006.10:g.32045092T>C	NCBI36
NG_032652.1:g.15533T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2410T>C	ENSP00000419905.1:n.*2410T>C
ENST00000483553.6:c.*423T>C	ENSP00000420332.2:n.*423T>C
ENST00000485349.6:n.3932T>C
ENST00000491994.2:c.3456T>C	ENSP00000417586.2:p.Cys1152=
ENST00000494058.6:n.3758T>C
ENST00000697831.1:c.3387T>C	ENSP00000513453.1:p.Cys1129=
ENST00000697832.1:n.3609T>C
ENST00000697833.1:c.*404T>C	ENSP00000513454.1:n.*404T>C
ENST00000697834.1:n.4080T>C
ENST00000697835.1:c.*2974T>C	ENSP00000513455.1:n.*2974T>C
ENST00000697836.1:n.3787T>C
ENST00000697837.1:c.*572T>C	ENSP00000513456.1:n.*572T>C
ENST00000697838.1:c.3321T>C	ENSP00000513457.1:p.Cys1107=
ENST00000697839.1:n.4174T>C
ENST00000697840.1:c.3492T>C	ENSP00000513458.1:p.Cys1164=
ENST00000697841.1:n.4273T>C
ENST00000697842.1:n.3711T>C
ENST00000375394.7:c.3456T>C MANE Select	ENSP00000364543.2:p.Cys1152=
ENST00000375394.6:c.3456T>C	ENSP00000364543.2:p.Cys1152=
ENST00000465703.5:n.4092T>C
ENST00000470453.1:n.382+20T>C
ENST00000471818.1:n.385T>C
ENST00000474839.5:c.*2828T>C	ENSP00000420470.1:n.*2828T>C
ENST00000483553.5:c.892T>C
ENST00000485349.5:n.662T>C
ENST00000491994.1:c.451T>C
NM_006929.4:c.3456T>C	NP_008860.4:p.Cys1152=
XR_001743586.2:n.3555T>C
XR_926301.3:n.3472T>C
NM_006929.5:c.3456T>C MANE Select	NP_008860.4:p.Cys1152=