Canonical Allele Identifier: CA566693137

Gene: SKIC2

Linked Data

• dbSNP Id: rs1172438150
• gnomAD v2: 6-31937525-C-G
• gnomAD v4: 6-31969748-C-G
• MyVariant Identifiers: chr6:g.31937525C>G (hg19) ; chr6:g.31969748C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969748C>G , CM000668.2:g.31969748C>G	GRCh38
NC_000006.11:g.31937525C>G , CM000668.1:g.31937525C>G	GRCh37
NC_000006.10:g.32045504C>G	NCBI36
NG_032652.1:g.15945C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2822C>G	ENSP00000419905.1:n.*2822C>G
ENST00000697831.1:c.*33C>G	ENSP00000513453.1:n.*33C>G
ENST00000697835.1:c.*3292C>G	ENSP00000513455.1:n.*3292C>G
ENST00000697838.1:c.*33C>G	ENSP00000513457.1:n.*33C>G
ENST00000375394.7:c.*33C>G MANE Select	ENSP00000364543.2:n.*33C>G
ENST00000375394.6:c.*33C>G	ENSP00000364543.2:n.*33C>G
ENST00000465703.5:n.4504C>G
ENST00000471818.1:n.703C>G
ENST00000474839.5:c.*3146C>G	ENSP00000420470.1:n.*3146C>G
ENST00000483553.5:c.1304C>G
ENST00000491994.1:c.863C>G
NM_006929.4:c.*33C>G	NP_008860.4:n.*33C>G
XR_926301.3:n.3790C>G
NM_006929.5:c.*33C>G MANE Select	NP_008860.4:n.*33C>G