Canonical Allele Identifier: CA363492421

Gene: SKIC2

Linked Data

• dbSNP Id: rs1773063063
• gnomAD v3: 6-31969686-G-A
• gnomAD v4: 6-31969686-G-A
• MyVariant Identifiers: chr6:g.31937463G>A (hg19) ; chr6:g.31969686G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969686G>A , CM000668.2:g.31969686G>A	GRCh38
NC_000006.11:g.31937463G>A , CM000668.1:g.31937463G>A	GRCh37
NC_000006.10:g.32045442G>A	NCBI36
NG_032652.1:g.15883G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2760G>A	ENSP00000419905.1:n.*2760G>A
ENST00000485349.6:n.4188G>A
ENST00000491994.2:c.*254G>A	ENSP00000417586.2:n.*254G>A
ENST00000494058.6:n.4014G>A
ENST00000697831.1:c.3643G>A	ENSP00000513453.1:p.Val1215Ile
ENST00000697832.1:n.3865G>A
ENST00000697834.1:n.4430G>A
ENST00000697835.1:c.*3230G>A	ENSP00000513455.1:n.*3230G>A
ENST00000697836.1:n.4066G>A
ENST00000697837.1:c.*828G>A	ENSP00000513456.1:n.*828G>A
ENST00000697838.1:c.3577G>A	ENSP00000513457.1:p.Val1193Ile
ENST00000697839.1:n.4524G>A
ENST00000697840.1:c.3748G>A	ENSP00000513458.1:p.Val1250Ile
ENST00000697841.1:n.4623G>A
ENST00000697842.1:n.3967G>A
ENST00000375394.7:c.3712G>A MANE Select	ENSP00000364543.2:p.Val1238Ile
ENST00000375394.6:c.3712G>A	ENSP00000364543.2:p.Val1238Ile
ENST00000465703.5:n.4442G>A
ENST00000471818.1:n.641G>A
ENST00000474839.5:c.*3084G>A	ENSP00000420470.1:n.*3084G>A
ENST00000483553.5:c.1242G>A
ENST00000491994.1:c.801G>A
NM_006929.4:c.3712G>A	NP_008860.4:p.Val1238Ile
XR_926301.3:n.3728G>A
NM_006929.5:c.3712G>A MANE Select	NP_008860.4:p.Val1238Ile