Canonical Allele Identifier: CA449814287

Gene: SKIC2

Linked Data

• dbSNP Id: rs1307463440
• gnomAD v2: 6-31937480-C-A
• gnomAD v4: 6-31969703-C-A
• MyVariant Identifiers: chr6:g.31937480C>A (hg19) ; chr6:g.31969703C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969703C>A , CM000668.2:g.31969703C>A	GRCh38
NC_000006.11:g.31937480C>A , CM000668.1:g.31937480C>A	GRCh37
NC_000006.10:g.32045459C>A	NCBI36
NG_032652.1:g.15900C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2777C>A	ENSP00000419905.1:n.*2777C>A
ENST00000485349.6:n.4205C>A
ENST00000491994.2:c.*271C>A	ENSP00000417586.2:n.*271C>A
ENST00000494058.6:n.4031C>A
ENST00000697831.1:c.3660C>A	ENSP00000513453.1:p.Leu1220=
ENST00000697832.1:n.3882C>A
ENST00000697834.1:n.4447C>A
ENST00000697835.1:c.*3247C>A	ENSP00000513455.1:n.*3247C>A
ENST00000697837.1:c.*845C>A	ENSP00000513456.1:n.*845C>A
ENST00000697838.1:c.3594C>A	ENSP00000513457.1:p.Leu1198=
ENST00000697839.1:n.4541C>A
ENST00000697840.1:c.3765C>A	ENSP00000513458.1:p.Leu1255=
ENST00000697841.1:n.4640C>A
ENST00000697842.1:n.3984C>A
ENST00000375394.7:c.3729C>A MANE Select	ENSP00000364543.2:p.Leu1243=
ENST00000375394.6:c.3729C>A	ENSP00000364543.2:p.Leu1243=
ENST00000465703.5:n.4459C>A
ENST00000471818.1:n.658C>A
ENST00000474839.5:c.*3101C>A	ENSP00000420470.1:n.*3101C>A
ENST00000483553.5:c.1259C>A
ENST00000491994.1:c.818C>A
NM_006929.4:c.3729C>A	NP_008860.4:p.Leu1243=
XR_926301.3:n.3745C>A
NM_006929.5:c.3729C>A MANE Select	NP_008860.4:p.Leu1243=