Canonical Allele Identifier: CA449813895

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937164G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969387G>C , CM000668.2:g.31969387G>C	GRCh38
NC_000006.11:g.31937164G>C , CM000668.1:g.31937164G>C	GRCh37
NC_000006.10:g.32045143G>C	NCBI36
NG_032652.1:g.15584G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2461G>C	ENSP00000419905.1:n.*2461G>C
ENST00000483553.6:c.*474G>C	ENSP00000420332.2:n.*474G>C
ENST00000485349.6:n.3983G>C
ENST00000491994.2:c.3507G>C	ENSP00000417586.2:p.Leu1169=
ENST00000494058.6:n.3809G>C
ENST00000697831.1:c.3438G>C	ENSP00000513453.1:p.Leu1146=
ENST00000697832.1:n.3660G>C
ENST00000697833.1:c.*455G>C	ENSP00000513454.1:n.*455G>C
ENST00000697834.1:n.4131G>C
ENST00000697835.1:c.*3025G>C	ENSP00000513455.1:n.*3025G>C
ENST00000697836.1:n.3838G>C
ENST00000697837.1:c.*623G>C	ENSP00000513456.1:n.*623G>C
ENST00000697838.1:c.3372G>C	ENSP00000513457.1:p.Leu1124=
ENST00000697839.1:n.4225G>C
ENST00000697840.1:c.3543G>C	ENSP00000513458.1:p.Leu1181=
ENST00000697841.1:n.4324G>C
ENST00000697842.1:n.3762G>C
ENST00000375394.7:c.3507G>C MANE Select	ENSP00000364543.2:p.Leu1169=
ENST00000375394.6:c.3507G>C	ENSP00000364543.2:p.Leu1169=
ENST00000465703.5:n.4143G>C
ENST00000470453.1:n.382+71G>C
ENST00000471818.1:n.436G>C
ENST00000474839.5:c.*2879G>C	ENSP00000420470.1:n.*2879G>C
ENST00000483553.5:c.943G>C
ENST00000485349.5:n.713G>C
ENST00000491994.1:c.502G>C
NM_006929.4:c.3507G>C	NP_008860.4:p.Leu1169=
XR_001743586.2:n.3606G>C
XR_926301.3:n.3523G>C
NM_006929.5:c.3507G>C MANE Select	NP_008860.4:p.Leu1169=