Canonical Allele Identifier: CA363491940

Gene: SKIC2

Linked Data

• dbSNP Id: rs1773057439
• MyVariant Identifiers: chr6:g.31937416T>C (hg19) ; chr6:g.31969639T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969639T>C , CM000668.2:g.31969639T>C	GRCh38
NC_000006.11:g.31937416T>C , CM000668.1:g.31937416T>C	GRCh37
NC_000006.10:g.32045395T>C	NCBI36
NG_032652.1:g.15836T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2713T>C	ENSP00000419905.1:n.*2713T>C
ENST00000485349.6:n.4141T>C
ENST00000491994.2:c.*207T>C	ENSP00000417586.2:n.*207T>C
ENST00000494058.6:n.3967T>C
ENST00000697831.1:c.3596T>C	ENSP00000513453.1:p.Leu1199Pro
ENST00000697832.1:n.3818T>C
ENST00000697834.1:n.4383T>C
ENST00000697835.1:c.*3183T>C	ENSP00000513455.1:n.*3183T>C
ENST00000697836.1:n.4019T>C
ENST00000697837.1:c.*781T>C	ENSP00000513456.1:n.*781T>C
ENST00000697838.1:c.3530T>C	ENSP00000513457.1:p.Leu1177Pro
ENST00000697839.1:n.4477T>C
ENST00000697840.1:c.3701T>C	ENSP00000513458.1:p.Leu1234Pro
ENST00000697841.1:n.4576T>C
ENST00000697842.1:n.3920T>C
ENST00000375394.7:c.3665T>C MANE Select	ENSP00000364543.2:p.Leu1222Pro
ENST00000375394.6:c.3665T>C	ENSP00000364543.2:p.Leu1222Pro
ENST00000465703.5:n.4395T>C
ENST00000471818.1:n.594T>C
ENST00000474839.5:c.*3037T>C	ENSP00000420470.1:n.*3037T>C
ENST00000483553.5:c.1195T>C
ENST00000491994.1:c.754T>C
NM_006929.4:c.3665T>C	NP_008860.4:p.Leu1222Pro
XR_926301.3:n.3681T>C
NM_006929.5:c.3665T>C MANE Select	NP_008860.4:p.Leu1222Pro