Canonical Allele Identifier: CA566693109

Gene: SKIC2

Linked Data

• dbSNP Id: rs1261095292
• gnomAD v2: 6-31937510-A-C
• gnomAD v4: 6-31969733-A-C
• MyVariant Identifiers: chr6:g.31937510A>C (hg19) ; chr6:g.31969733A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969733A>C , CM000668.2:g.31969733A>C	GRCh38
NC_000006.11:g.31937510A>C , CM000668.1:g.31937510A>C	GRCh37
NC_000006.10:g.32045489A>C	NCBI36
NG_032652.1:g.15930A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2807A>C	ENSP00000419905.1:n.*2807A>C
ENST00000494058.6:n.4061A>C
ENST00000697831.1:c.*18A>C	ENSP00000513453.1:n.*18A>C
ENST00000697832.1:n.3912A>C
ENST00000697835.1:c.*3277A>C	ENSP00000513455.1:n.*3277A>C
ENST00000697837.1:c.*875A>C	ENSP00000513456.1:n.*875A>C
ENST00000697838.1:c.*18A>C	ENSP00000513457.1:n.*18A>C
ENST00000697840.1:c.*18A>C	ENSP00000513458.1:n.*18A>C
ENST00000697842.1:n.4014A>C
ENST00000375394.7:c.*18A>C MANE Select	ENSP00000364543.2:n.*18A>C
ENST00000375394.6:c.*18A>C	ENSP00000364543.2:n.*18A>C
ENST00000465703.5:n.4489A>C
ENST00000471818.1:n.688A>C
ENST00000474839.5:c.*3131A>C	ENSP00000420470.1:n.*3131A>C
ENST00000483553.5:c.1289A>C
ENST00000491994.1:c.848A>C
NM_006929.4:c.*18A>C	NP_008860.4:n.*18A>C
XR_926301.3:n.3775A>C
NM_006929.5:c.*18A>C MANE Select	NP_008860.4:n.*18A>C