Canonical Allele Identifier: CA449813883

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937152G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969375G>C , CM000668.2:g.31969375G>C	GRCh38
NC_000006.11:g.31937152G>C , CM000668.1:g.31937152G>C	GRCh37
NC_000006.10:g.32045131G>C	NCBI36
NG_032652.1:g.15572G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2449G>C	ENSP00000419905.1:n.*2449G>C
ENST00000483553.6:c.*462G>C	ENSP00000420332.2:n.*462G>C
ENST00000485349.6:n.3971G>C
ENST00000491994.2:c.3495G>C	ENSP00000417586.2:p.Leu1165=
ENST00000494058.6:n.3797G>C
ENST00000697831.1:c.3426G>C	ENSP00000513453.1:p.Leu1142=
ENST00000697832.1:n.3648G>C
ENST00000697833.1:c.*443G>C	ENSP00000513454.1:n.*443G>C
ENST00000697834.1:n.4119G>C
ENST00000697835.1:c.*3013G>C	ENSP00000513455.1:n.*3013G>C
ENST00000697836.1:n.3826G>C
ENST00000697837.1:c.*611G>C	ENSP00000513456.1:n.*611G>C
ENST00000697838.1:c.3360G>C	ENSP00000513457.1:p.Leu1120=
ENST00000697839.1:n.4213G>C
ENST00000697840.1:c.3531G>C	ENSP00000513458.1:p.Leu1177=
ENST00000697841.1:n.4312G>C
ENST00000697842.1:n.3750G>C
ENST00000375394.7:c.3495G>C MANE Select	ENSP00000364543.2:p.Leu1165=
ENST00000375394.6:c.3495G>C	ENSP00000364543.2:p.Leu1165=
ENST00000465703.5:n.4131G>C
ENST00000470453.1:n.382+59G>C
ENST00000471818.1:n.424G>C
ENST00000474839.5:c.*2867G>C	ENSP00000420470.1:n.*2867G>C
ENST00000483553.5:c.931G>C
ENST00000485349.5:n.701G>C
ENST00000491994.1:c.490G>C
NM_006929.4:c.3495G>C	NP_008860.4:p.Leu1165=
XR_001743586.2:n.3594G>C
XR_926301.3:n.3511G>C
NM_006929.5:c.3495G>C MANE Select	NP_008860.4:p.Leu1165=