Canonical Allele Identifier: CA449814096

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937336G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969559G>A , CM000668.2:g.31969559G>A	GRCh38
NC_000006.11:g.31937336G>A , CM000668.1:g.31937336G>A	GRCh37
NC_000006.10:g.32045315G>A	NCBI36
NG_032652.1:g.15756G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2633G>A	ENSP00000419905.1:n.*2633G>A
ENST00000485349.6:n.4061G>A
ENST00000491994.2:c.*127G>A	ENSP00000417586.2:n.*127G>A
ENST00000494058.6:n.3887G>A
ENST00000697831.1:c.3516G>A	ENSP00000513453.1:p.Leu1172=
ENST00000697832.1:n.3738G>A
ENST00000697833.1:c.*533G>A	ENSP00000513454.1:n.*533G>A
ENST00000697834.1:n.4303G>A
ENST00000697835.1:c.*3103G>A	ENSP00000513455.1:n.*3103G>A
ENST00000697836.1:n.3939G>A
ENST00000697837.1:c.*701G>A	ENSP00000513456.1:n.*701G>A
ENST00000697838.1:c.3450G>A	ENSP00000513457.1:p.Leu1150=
ENST00000697839.1:n.4397G>A
ENST00000697840.1:c.3621G>A	ENSP00000513458.1:p.Leu1207=
ENST00000697841.1:n.4496G>A
ENST00000697842.1:n.3840G>A
ENST00000375394.7:c.3585G>A MANE Select	ENSP00000364543.2:p.Leu1195=
ENST00000375394.6:c.3585G>A	ENSP00000364543.2:p.Leu1195=
ENST00000465703.5:n.4315G>A
ENST00000470453.1:n.427G>A
ENST00000471818.1:n.514G>A
ENST00000474839.5:c.*2957G>A	ENSP00000420470.1:n.*2957G>A
ENST00000483553.5:c.1115G>A
ENST00000491994.1:c.674G>A
NM_006929.4:c.3585G>A	NP_008860.4:p.Leu1195=
XR_926301.3:n.3601G>A
NM_006929.5:c.3585G>A MANE Select	NP_008860.4:p.Leu1195=