Canonical Allele Identifier: CA449813823

Gene: SKIC2

Linked Data

• dbSNP Id: rs1476702644
• gnomAD v2: 6-31937117-C-T
• gnomAD v4: 6-31969340-C-T
• MyVariant Identifiers: chr6:g.31937117C>T (hg19) ; chr6:g.31969340C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969340C>T , CM000668.2:g.31969340C>T	GRCh38
NC_000006.11:g.31937117C>T , CM000668.1:g.31937117C>T	GRCh37
NC_000006.10:g.32045096C>T	NCBI36
NG_032652.1:g.15537C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2414C>T	ENSP00000419905.1:n.*2414C>T
ENST00000483553.6:c.*427C>T	ENSP00000420332.2:n.*427C>T
ENST00000485349.6:n.3936C>T
ENST00000491994.2:c.3460C>T	ENSP00000417586.2:p.Leu1154=
ENST00000494058.6:n.3762C>T
ENST00000697831.1:c.3391C>T	ENSP00000513453.1:p.Leu1131=
ENST00000697832.1:n.3613C>T
ENST00000697833.1:c.*408C>T	ENSP00000513454.1:n.*408C>T
ENST00000697834.1:n.4084C>T
ENST00000697835.1:c.*2978C>T	ENSP00000513455.1:n.*2978C>T
ENST00000697836.1:n.3791C>T
ENST00000697837.1:c.*576C>T	ENSP00000513456.1:n.*576C>T
ENST00000697838.1:c.3325C>T	ENSP00000513457.1:p.Leu1109=
ENST00000697839.1:n.4178C>T
ENST00000697840.1:c.3496C>T	ENSP00000513458.1:p.Leu1166=
ENST00000697841.1:n.4277C>T
ENST00000697842.1:n.3715C>T
ENST00000375394.7:c.3460C>T MANE Select	ENSP00000364543.2:p.Leu1154=
ENST00000375394.6:c.3460C>T	ENSP00000364543.2:p.Leu1154=
ENST00000465703.5:n.4096C>T
ENST00000470453.1:n.382+24C>T
ENST00000471818.1:n.389C>T
ENST00000474839.5:c.*2832C>T	ENSP00000420470.1:n.*2832C>T
ENST00000483553.5:c.896C>T
ENST00000485349.5:n.666C>T
ENST00000491994.1:c.455C>T
NM_006929.4:c.3460C>T	NP_008860.4:p.Leu1154=
XR_001743586.2:n.3559C>T
XR_926301.3:n.3476C>T
NM_006929.5:c.3460C>T MANE Select	NP_008860.4:p.Leu1154=