Canonical Allele Identifier: CA449814298

Gene: SKIC2

Linked Data

• gnomAD v4: 6-31969709-C-A
• MyVariant Identifiers: chr6:g.31937486C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969709C>A , CM000668.2:g.31969709C>A	GRCh38
NC_000006.11:g.31937486C>A , CM000668.1:g.31937486C>A	GRCh37
NC_000006.10:g.32045465C>A	NCBI36
NG_032652.1:g.15906C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2783C>A	ENSP00000419905.1:n.*2783C>A
ENST00000485349.6:n.4211C>A
ENST00000491994.2:c.*277C>A	ENSP00000417586.2:n.*277C>A
ENST00000494058.6:n.4037C>A
ENST00000697831.1:c.3666C>A	ENSP00000513453.1:p.Thr1222=
ENST00000697832.1:n.3888C>A
ENST00000697834.1:n.4453C>A
ENST00000697835.1:c.*3253C>A	ENSP00000513455.1:n.*3253C>A
ENST00000697837.1:c.*851C>A	ENSP00000513456.1:n.*851C>A
ENST00000697838.1:c.3600C>A	ENSP00000513457.1:p.Thr1200=
ENST00000697839.1:n.4547C>A
ENST00000697840.1:c.3771C>A	ENSP00000513458.1:p.Thr1257=
ENST00000697841.1:n.4646C>A
ENST00000697842.1:n.3990C>A
ENST00000375394.7:c.3735C>A MANE Select	ENSP00000364543.2:p.Thr1245=
ENST00000375394.6:c.3735C>A	ENSP00000364543.2:p.Thr1245=
ENST00000465703.5:n.4465C>A
ENST00000471818.1:n.664C>A
ENST00000474839.5:c.*3107C>A	ENSP00000420470.1:n.*3107C>A
ENST00000483553.5:c.1265C>A
ENST00000491994.1:c.824C>A
NM_006929.4:c.3735C>A	NP_008860.4:p.Thr1245=
XR_926301.3:n.3751C>A
NM_006929.5:c.3735C>A MANE Select	NP_008860.4:p.Thr1245=