Canonical Allele Identifier: CA363490330

Gene: SKIC2

Linked Data

• gnomAD v4: 6-31969407-G-A
• MyVariant Identifiers: chr6:g.31937184G>A (hg19) ; chr6:g.31969407G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969407G>A , CM000668.2:g.31969407G>A	GRCh38
NC_000006.11:g.31937184G>A , CM000668.1:g.31937184G>A	GRCh37
NC_000006.10:g.32045163G>A	NCBI36
NG_032652.1:g.15604G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2481G>A	ENSP00000419905.1:n.*2481G>A
ENST00000483553.6:c.*494G>A	ENSP00000420332.2:n.*494G>A
ENST00000485349.6:n.4003G>A
ENST00000491994.2:c.3527G>A	ENSP00000417586.2:p.Trp1176Ter
ENST00000494058.6:n.3829G>A
ENST00000697831.1:c.3458G>A	ENSP00000513453.1:p.Trp1153Ter
ENST00000697832.1:n.3680G>A
ENST00000697833.1:c.*475G>A	ENSP00000513454.1:n.*475G>A
ENST00000697834.1:n.4151G>A
ENST00000697835.1:c.*3045G>A	ENSP00000513455.1:n.*3045G>A
ENST00000697836.1:n.3858G>A
ENST00000697837.1:c.*643G>A	ENSP00000513456.1:n.*643G>A
ENST00000697838.1:c.3392G>A	ENSP00000513457.1:p.Trp1131Ter
ENST00000697839.1:n.4245G>A
ENST00000697840.1:c.3563G>A	ENSP00000513458.1:p.Trp1188Ter
ENST00000697841.1:n.4344G>A
ENST00000697842.1:n.3782G>A
ENST00000375394.7:c.3527G>A MANE Select	ENSP00000364543.2:p.Trp1176Ter
ENST00000375394.6:c.3527G>A	ENSP00000364543.2:p.Trp1176Ter
ENST00000465703.5:n.4163G>A
ENST00000470453.1:n.382+91G>A
ENST00000471818.1:n.456G>A
ENST00000474839.5:c.*2899G>A	ENSP00000420470.1:n.*2899G>A
ENST00000483553.5:c.963G>A
ENST00000485349.5:n.733G>A
ENST00000491994.1:c.522G>A
NM_006929.4:c.3527G>A	NP_008860.4:p.Trp1176Ter
XR_001743586.2:n.3626G>A
XR_926301.3:n.3543G>A
NM_006929.5:c.3527G>A MANE Select	NP_008860.4:p.Trp1176Ter