Canonical Allele Identifier: CA363435366

Gene: SKIC2

Linked Data

• gnomAD v4: 6-31960224-T-C
• MyVariant Identifiers: chr6:g.31928001T>C (hg19) ; chr6:g.31960224T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31960224T>C , CM000668.2:g.31960224T>C	GRCh38
NC_000006.11:g.31928001T>C , CM000668.1:g.31928001T>C	GRCh37
NC_000006.10:g.32035980T>C	NCBI36
NG_032652.1:g.6421T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.241T>C	ENSP00000419905.1:p.Trp81Arg
ENST00000483553.6:c.241T>C	ENSP00000420332.2:p.Trp81Arg
ENST00000485349.6:n.282T>C
ENST00000491994.2:c.241T>C	ENSP00000417586.2:p.Trp81Arg
ENST00000494058.6:n.298T>C
ENST00000697831.1:c.241T>C	ENSP00000513453.1:p.Trp81Arg
ENST00000697832.1:n.317T>C
ENST00000697833.1:c.241T>C	ENSP00000513454.1:p.Trp81Arg
ENST00000697834.1:n.293T>C
ENST00000697835.1:c.260T>C	ENSP00000513455.1:p.Met87Thr
ENST00000697836.1:n.277T>C
ENST00000697837.1:c.241T>C	ENSP00000513456.1:p.Trp81Arg
ENST00000697838.1:c.106T>C	ENSP00000513457.1:p.Trp36Arg
ENST00000697839.1:n.263T>C
ENST00000697840.1:c.241T>C	ENSP00000513458.1:p.Trp81Arg
ENST00000697841.1:n.252T>C
ENST00000697842.1:n.241T>C
ENST00000375394.7:c.241T>C MANE Select	ENSP00000364543.2:p.Trp81Arg
ENST00000375394.6:c.241T>C	ENSP00000364543.2:p.Trp81Arg
ENST00000461073.5:c.241T>C	ENSP00000419905.1:p.Trp81Arg
ENST00000465703.5:n.293T>C
ENST00000474839.5:c.127-817T>C	ENSP00000420470.1:n.127-817T>C
ENST00000488648.5:n.317T>C
ENST00000628157.1:c.127-817T>C	ENSP00000485707.1:n.127-817T>C
NM_006929.4:c.241T>C	NP_008860.4:p.Trp81Arg
XM_006715168.2:c.241T>C	XP_006715231.1:p.Trp81Arg
XM_011514815.1:c.241T>C	XP_011513117.1:p.Trp81Arg
XR_926301.1:n.329T>C
XM_011514815.3:c.241T>C	XP_011513117.1:p.Trp81Arg
XR_001743586.2:n.277T>C
XR_926301.3:n.277T>C
NM_006929.5:c.241T>C MANE Select	NP_008860.4:p.Trp81Arg