Canonical Allele Identifier: CA363490863

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937316T>C (hg19) ; chr6:g.31969539T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969539T>C , CM000668.2:g.31969539T>C	GRCh38
NC_000006.11:g.31937316T>C , CM000668.1:g.31937316T>C	GRCh37
NC_000006.10:g.32045295T>C	NCBI36
NG_032652.1:g.15736T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2613T>C	ENSP00000419905.1:n.*2613T>C
ENST00000485349.6:n.4041T>C
ENST00000491994.2:c.*107T>C	ENSP00000417586.2:n.*107T>C
ENST00000494058.6:n.3867T>C
ENST00000697831.1:c.3496T>C	ENSP00000513453.1:p.Ser1166Pro
ENST00000697832.1:n.3718T>C
ENST00000697833.1:c.*513T>C	ENSP00000513454.1:n.*513T>C
ENST00000697834.1:n.4283T>C
ENST00000697835.1:c.*3083T>C	ENSP00000513455.1:n.*3083T>C
ENST00000697836.1:n.3919T>C
ENST00000697837.1:c.*681T>C	ENSP00000513456.1:n.*681T>C
ENST00000697838.1:c.3430T>C	ENSP00000513457.1:p.Ser1144Pro
ENST00000697839.1:n.4377T>C
ENST00000697840.1:c.3601T>C	ENSP00000513458.1:p.Ser1201Pro
ENST00000697841.1:n.4476T>C
ENST00000697842.1:n.3820T>C
ENST00000375394.7:c.3565T>C MANE Select	ENSP00000364543.2:p.Ser1189Pro
ENST00000375394.6:c.3565T>C	ENSP00000364543.2:p.Ser1189Pro
ENST00000465703.5:n.4295T>C
ENST00000470453.1:n.407T>C
ENST00000471818.1:n.494T>C
ENST00000474839.5:c.*2937T>C	ENSP00000420470.1:n.*2937T>C
ENST00000483553.5:c.1095T>C
ENST00000491994.1:c.654T>C
NM_006929.4:c.3565T>C	NP_008860.4:p.Ser1189Pro
XR_926301.3:n.3581T>C
NM_006929.5:c.3565T>C MANE Select	NP_008860.4:p.Ser1189Pro