Canonical Allele Identifier: CA449813803

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937107G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969330G>C , CM000668.2:g.31969330G>C	GRCh38
NC_000006.11:g.31937107G>C , CM000668.1:g.31937107G>C	GRCh37
NC_000006.10:g.32045086G>C	NCBI36
NG_032652.1:g.15527G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2404G>C	ENSP00000419905.1:n.*2404G>C
ENST00000483553.6:c.*417G>C	ENSP00000420332.2:n.*417G>C
ENST00000485349.6:n.3926G>C
ENST00000491994.2:c.3450G>C	ENSP00000417586.2:p.Val1150=
ENST00000494058.6:n.3752G>C
ENST00000697831.1:c.3381G>C	ENSP00000513453.1:p.Val1127=
ENST00000697832.1:n.3603G>C
ENST00000697833.1:c.*398G>C	ENSP00000513454.1:n.*398G>C
ENST00000697834.1:n.4074G>C
ENST00000697835.1:c.*2968G>C	ENSP00000513455.1:n.*2968G>C
ENST00000697836.1:n.3781G>C
ENST00000697837.1:c.*566G>C	ENSP00000513456.1:n.*566G>C
ENST00000697838.1:c.3315G>C	ENSP00000513457.1:p.Val1105=
ENST00000697839.1:n.4168G>C
ENST00000697840.1:c.3486G>C	ENSP00000513458.1:p.Val1162=
ENST00000697841.1:n.4267G>C
ENST00000697842.1:n.3705G>C
ENST00000375394.7:c.3450G>C MANE Select	ENSP00000364543.2:p.Val1150=
ENST00000375394.6:c.3450G>C	ENSP00000364543.2:p.Val1150=
ENST00000465703.5:n.4086G>C
ENST00000470453.1:n.382+14G>C
ENST00000471818.1:n.379G>C
ENST00000474839.5:c.*2822G>C	ENSP00000420470.1:n.*2822G>C
ENST00000483553.5:c.886G>C
ENST00000485349.5:n.656G>C
ENST00000491994.1:c.445G>C
NM_006929.4:c.3450G>C	NP_008860.4:p.Val1150=
XR_001743586.2:n.3549G>C
XR_926301.3:n.3466G>C
NM_006929.5:c.3450G>C MANE Select	NP_008860.4:p.Val1150=