Canonical Allele Identifier: CA136905659

Gene: SKIC2

Linked Data

• dbSNP Id: rs936645096
• gnomAD v4: 6-31960253-T-C
• MyVariant Identifiers: chr6:g.31928030T>C (hg19) ; chr6:g.31960253T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31960253T>C , CM000668.2:g.31960253T>C	GRCh38
NC_000006.11:g.31928030T>C , CM000668.1:g.31928030T>C	GRCh37
NC_000006.10:g.32036009T>C	NCBI36
NG_032652.1:g.6450T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.270T>C	ENSP00000419905.1:p.Leu90=
ENST00000483553.6:c.270T>C	ENSP00000420332.2:p.Leu90=
ENST00000485349.6:n.311T>C
ENST00000491994.2:c.270T>C	ENSP00000417586.2:p.Leu90=
ENST00000494058.6:n.327T>C
ENST00000697831.1:c.270T>C	ENSP00000513453.1:p.Leu90=
ENST00000697832.1:n.346T>C
ENST00000697833.1:c.270T>C	ENSP00000513454.1:p.Leu90=
ENST00000697834.1:n.322T>C
ENST00000697835.1:c.289T>C	ENSP00000513455.1:p.Phe97Leu
ENST00000697836.1:n.306T>C
ENST00000697837.1:c.270T>C	ENSP00000513456.1:p.Leu90=
ENST00000697838.1:c.135T>C	ENSP00000513457.1:p.Leu45=
ENST00000697839.1:n.292T>C
ENST00000697840.1:c.270T>C	ENSP00000513458.1:p.Leu90=
ENST00000697841.1:n.281T>C
ENST00000697842.1:n.270T>C
ENST00000375394.7:c.270T>C MANE Select	ENSP00000364543.2:p.Leu90=
ENST00000375394.6:c.270T>C	ENSP00000364543.2:p.Leu90=
ENST00000461073.5:c.270T>C	ENSP00000419905.1:p.Leu90=
ENST00000465703.5:n.322T>C
ENST00000474839.5:c.127-788T>C	ENSP00000420470.1:n.127-788T>C
ENST00000488648.5:n.346T>C
ENST00000628157.1:c.127-788T>C	ENSP00000485707.1:n.127-788T>C
NM_006929.4:c.270T>C	NP_008860.4:p.Leu90=
XM_006715168.2:c.270T>C	XP_006715231.1:p.Leu90=
XM_011514815.1:c.270T>C	XP_011513117.1:p.Leu90=
XR_926301.1:n.358T>C
XM_011514815.3:c.270T>C	XP_011513117.1:p.Leu90=
XR_001743586.2:n.306T>C
XR_926301.3:n.306T>C
NM_006929.5:c.270T>C MANE Select	NP_008860.4:p.Leu90=