Canonical Allele Identifier: CA449814228

Gene: SKIC2

Linked Data

• gnomAD v4: 6-31969679-G-A
• MyVariant Identifiers: chr6:g.31937456G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969679G>A , CM000668.2:g.31969679G>A	GRCh38
NC_000006.11:g.31937456G>A , CM000668.1:g.31937456G>A	GRCh37
NC_000006.10:g.32045435G>A	NCBI36
NG_032652.1:g.15876G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2753G>A	ENSP00000419905.1:n.*2753G>A
ENST00000485349.6:n.4181G>A
ENST00000491994.2:c.*247G>A	ENSP00000417586.2:n.*247G>A
ENST00000494058.6:n.4007G>A
ENST00000697831.1:c.3636G>A	ENSP00000513453.1:p.Arg1212=
ENST00000697832.1:n.3858G>A
ENST00000697834.1:n.4423G>A
ENST00000697835.1:c.*3223G>A	ENSP00000513455.1:n.*3223G>A
ENST00000697836.1:n.4059G>A
ENST00000697837.1:c.*821G>A	ENSP00000513456.1:n.*821G>A
ENST00000697838.1:c.3570G>A	ENSP00000513457.1:p.Arg1190=
ENST00000697839.1:n.4517G>A
ENST00000697840.1:c.3741G>A	ENSP00000513458.1:p.Arg1247=
ENST00000697841.1:n.4616G>A
ENST00000697842.1:n.3960G>A
ENST00000375394.7:c.3705G>A MANE Select	ENSP00000364543.2:p.Arg1235=
ENST00000375394.6:c.3705G>A	ENSP00000364543.2:p.Arg1235=
ENST00000465703.5:n.4435G>A
ENST00000471818.1:n.634G>A
ENST00000474839.5:c.*3077G>A	ENSP00000420470.1:n.*3077G>A
ENST00000483553.5:c.1235G>A
ENST00000491994.1:c.794G>A
NM_006929.4:c.3705G>A	NP_008860.4:p.Arg1235=
XR_926301.3:n.3721G>A
NM_006929.5:c.3705G>A MANE Select	NP_008860.4:p.Arg1235=