Canonical Allele Identifier: CA363491914

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937412G>C (hg19) ; chr6:g.31969635G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969635G>C , CM000668.2:g.31969635G>C	GRCh38
NC_000006.11:g.31937412G>C , CM000668.1:g.31937412G>C	GRCh37
NC_000006.10:g.32045391G>C	NCBI36
NG_032652.1:g.15832G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2709G>C	ENSP00000419905.1:n.*2709G>C
ENST00000485349.6:n.4137G>C
ENST00000491994.2:c.*203G>C	ENSP00000417586.2:n.*203G>C
ENST00000494058.6:n.3963G>C
ENST00000697831.1:c.3592G>C	ENSP00000513453.1:p.Val1198Leu
ENST00000697832.1:n.3814G>C
ENST00000697834.1:n.4379G>C
ENST00000697835.1:c.*3179G>C	ENSP00000513455.1:n.*3179G>C
ENST00000697836.1:n.4015G>C
ENST00000697837.1:c.*777G>C	ENSP00000513456.1:n.*777G>C
ENST00000697838.1:c.3526G>C	ENSP00000513457.1:p.Val1176Leu
ENST00000697839.1:n.4473G>C
ENST00000697840.1:c.3697G>C	ENSP00000513458.1:p.Val1233Leu
ENST00000697841.1:n.4572G>C
ENST00000697842.1:n.3916G>C
ENST00000375394.7:c.3661G>C MANE Select	ENSP00000364543.2:p.Val1221Leu
ENST00000375394.6:c.3661G>C	ENSP00000364543.2:p.Val1221Leu
ENST00000465703.5:n.4391G>C
ENST00000471818.1:n.590G>C
ENST00000474839.5:c.*3033G>C	ENSP00000420470.1:n.*3033G>C
ENST00000483553.5:c.1191G>C
ENST00000491994.1:c.750G>C
NM_006929.4:c.3661G>C	NP_008860.4:p.Val1221Leu
XR_926301.3:n.3677G>C
NM_006929.5:c.3661G>C MANE Select	NP_008860.4:p.Val1221Leu