Canonical Allele Identifier: CA363490230

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937171G>C (hg19) ; chr6:g.31969394G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969394G>C , CM000668.2:g.31969394G>C	GRCh38
NC_000006.11:g.31937171G>C , CM000668.1:g.31937171G>C	GRCh37
NC_000006.10:g.32045150G>C	NCBI36
NG_032652.1:g.15591G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2468G>C	ENSP00000419905.1:n.*2468G>C
ENST00000483553.6:c.*481G>C	ENSP00000420332.2:n.*481G>C
ENST00000485349.6:n.3990G>C
ENST00000491994.2:c.3514G>C	ENSP00000417586.2:p.Val1172Leu
ENST00000494058.6:n.3816G>C
ENST00000697831.1:c.3445G>C	ENSP00000513453.1:p.Val1149Leu
ENST00000697832.1:n.3667G>C
ENST00000697833.1:c.*462G>C	ENSP00000513454.1:n.*462G>C
ENST00000697834.1:n.4138G>C
ENST00000697835.1:c.*3032G>C	ENSP00000513455.1:n.*3032G>C
ENST00000697836.1:n.3845G>C
ENST00000697837.1:c.*630G>C	ENSP00000513456.1:n.*630G>C
ENST00000697838.1:c.3379G>C	ENSP00000513457.1:p.Val1127Leu
ENST00000697839.1:n.4232G>C
ENST00000697840.1:c.3550G>C	ENSP00000513458.1:p.Val1184Leu
ENST00000697841.1:n.4331G>C
ENST00000697842.1:n.3769G>C
ENST00000375394.7:c.3514G>C MANE Select	ENSP00000364543.2:p.Val1172Leu
ENST00000375394.6:c.3514G>C	ENSP00000364543.2:p.Val1172Leu
ENST00000465703.5:n.4150G>C
ENST00000470453.1:n.382+78G>C
ENST00000471818.1:n.443G>C
ENST00000474839.5:c.*2886G>C	ENSP00000420470.1:n.*2886G>C
ENST00000483553.5:c.950G>C
ENST00000485349.5:n.720G>C
ENST00000491994.1:c.509G>C
NM_006929.4:c.3514G>C	NP_008860.4:p.Val1172Leu
XR_001743586.2:n.3613G>C
XR_926301.3:n.3530G>C
NM_006929.5:c.3514G>C MANE Select	NP_008860.4:p.Val1172Leu