Canonical Allele Identifier: CA363489874

Gene: SKIC2

Linked Data

• dbSNP Id: rs1433178825
• gnomAD v2: 6-31937129-G-A
• gnomAD v4: 6-31969352-G-A
• MyVariant Identifiers: chr6:g.31937129G>A (hg19) ; chr6:g.31969352G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969352G>A , CM000668.2:g.31969352G>A	GRCh38
NC_000006.11:g.31937129G>A , CM000668.1:g.31937129G>A	GRCh37
NC_000006.10:g.32045108G>A	NCBI36
NG_032652.1:g.15549G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2426G>A	ENSP00000419905.1:n.*2426G>A
ENST00000483553.6:c.*439G>A	ENSP00000420332.2:n.*439G>A
ENST00000485349.6:n.3948G>A
ENST00000491994.2:c.3472G>A	ENSP00000417586.2:p.Val1158Met
ENST00000494058.6:n.3774G>A
ENST00000697831.1:c.3403G>A	ENSP00000513453.1:p.Val1135Met
ENST00000697832.1:n.3625G>A
ENST00000697833.1:c.*420G>A	ENSP00000513454.1:n.*420G>A
ENST00000697834.1:n.4096G>A
ENST00000697835.1:c.*2990G>A	ENSP00000513455.1:n.*2990G>A
ENST00000697836.1:n.3803G>A
ENST00000697837.1:c.*588G>A	ENSP00000513456.1:n.*588G>A
ENST00000697838.1:c.3337G>A	ENSP00000513457.1:p.Val1113Met
ENST00000697839.1:n.4190G>A
ENST00000697840.1:c.3508G>A	ENSP00000513458.1:p.Val1170Met
ENST00000697841.1:n.4289G>A
ENST00000697842.1:n.3727G>A
ENST00000375394.7:c.3472G>A MANE Select	ENSP00000364543.2:p.Val1158Met
ENST00000375394.6:c.3472G>A	ENSP00000364543.2:p.Val1158Met
ENST00000465703.5:n.4108G>A
ENST00000470453.1:n.382+36G>A
ENST00000471818.1:n.401G>A
ENST00000474839.5:c.*2844G>A	ENSP00000420470.1:n.*2844G>A
ENST00000483553.5:c.908G>A
ENST00000485349.5:n.678G>A
ENST00000491994.1:c.467G>A
NM_006929.4:c.3472G>A	NP_008860.4:p.Val1158Met
XR_001743586.2:n.3571G>A
XR_926301.3:n.3488G>A
NM_006929.5:c.3472G>A MANE Select	NP_008860.4:p.Val1158Met