Canonical Allele Identifier: CA449814134

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937360G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969583G>C , CM000668.2:g.31969583G>C	GRCh38
NC_000006.11:g.31937360G>C , CM000668.1:g.31937360G>C	GRCh37
NC_000006.10:g.32045339G>C	NCBI36
NG_032652.1:g.15780G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2657G>C	ENSP00000419905.1:n.*2657G>C
ENST00000485349.6:n.4085G>C
ENST00000491994.2:c.*151G>C	ENSP00000417586.2:n.*151G>C
ENST00000494058.6:n.3911G>C
ENST00000697831.1:c.3540G>C	ENSP00000513453.1:p.Leu1180=
ENST00000697832.1:n.3762G>C
ENST00000697833.1:c.*557G>C	ENSP00000513454.1:n.*557G>C
ENST00000697834.1:n.4327G>C
ENST00000697835.1:c.*3127G>C	ENSP00000513455.1:n.*3127G>C
ENST00000697836.1:n.3963G>C
ENST00000697837.1:c.*725G>C	ENSP00000513456.1:n.*725G>C
ENST00000697838.1:c.3474G>C	ENSP00000513457.1:p.Leu1158=
ENST00000697839.1:n.4421G>C
ENST00000697840.1:c.3645G>C	ENSP00000513458.1:p.Leu1215=
ENST00000697841.1:n.4520G>C
ENST00000697842.1:n.3864G>C
ENST00000375394.7:c.3609G>C MANE Select	ENSP00000364543.2:p.Leu1203=
ENST00000375394.6:c.3609G>C	ENSP00000364543.2:p.Leu1203=
ENST00000465703.5:n.4339G>C
ENST00000470453.1:n.451G>C
ENST00000471818.1:n.538G>C
ENST00000474839.5:c.*2981G>C	ENSP00000420470.1:n.*2981G>C
ENST00000483553.5:c.1139G>C
ENST00000491994.1:c.698G>C
NM_006929.4:c.3609G>C	NP_008860.4:p.Leu1203=
XR_926301.3:n.3625G>C
NM_006929.5:c.3609G>C MANE Select	NP_008860.4:p.Leu1203=