Canonical Allele Identifier: CA449814151

Gene: SKIC2

Linked Data

• gnomAD v4: 6-31969605-C-A
• MyVariant Identifiers: chr6:g.31937382C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969605C>A , CM000668.2:g.31969605C>A	GRCh38
NC_000006.11:g.31937382C>A , CM000668.1:g.31937382C>A	GRCh37
NC_000006.10:g.32045361C>A	NCBI36
NG_032652.1:g.15802C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2679C>A	ENSP00000419905.1:n.*2679C>A
ENST00000485349.6:n.4107C>A
ENST00000491994.2:c.*173C>A	ENSP00000417586.2:n.*173C>A
ENST00000494058.6:n.3933C>A
ENST00000697831.1:c.3562C>A	ENSP00000513453.1:p.Arg1188=
ENST00000697832.1:n.3784C>A
ENST00000697834.1:n.4349C>A
ENST00000697835.1:c.*3149C>A	ENSP00000513455.1:n.*3149C>A
ENST00000697836.1:n.3985C>A
ENST00000697837.1:c.*747C>A	ENSP00000513456.1:n.*747C>A
ENST00000697838.1:c.3496C>A	ENSP00000513457.1:p.Arg1166=
ENST00000697839.1:n.4443C>A
ENST00000697840.1:c.3667C>A	ENSP00000513458.1:p.Arg1223=
ENST00000697841.1:n.4542C>A
ENST00000697842.1:n.3886C>A
ENST00000375394.7:c.3631C>A MANE Select	ENSP00000364543.2:p.Arg1211=
ENST00000375394.6:c.3631C>A	ENSP00000364543.2:p.Arg1211=
ENST00000465703.5:n.4361C>A
ENST00000471818.1:n.560C>A
ENST00000474839.5:c.*3003C>A	ENSP00000420470.1:n.*3003C>A
ENST00000483553.5:c.1161C>A
ENST00000491994.1:c.720C>A
NM_006929.4:c.3631C>A	NP_008860.4:p.Arg1211=
XR_926301.3:n.3647C>A
NM_006929.5:c.3631C>A MANE Select	NP_008860.4:p.Arg1211=