Canonical Allele Identifier: CA363490658

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937297C>G (hg19) ; chr6:g.31969520C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969520C>G , CM000668.2:g.31969520C>G	GRCh38
NC_000006.11:g.31937297C>G , CM000668.1:g.31937297C>G	GRCh37
NC_000006.10:g.32045276C>G	NCBI36
NG_032652.1:g.15717C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2594C>G	ENSP00000419905.1:n.*2594C>G
ENST00000485349.6:n.4022C>G
ENST00000491994.2:c.*88C>G	ENSP00000417586.2:n.*88C>G
ENST00000494058.6:n.3848C>G
ENST00000697831.1:c.3477C>G	ENSP00000513453.1:p.Phe1159Leu
ENST00000697832.1:n.3699C>G
ENST00000697833.1:c.*494C>G	ENSP00000513454.1:n.*494C>G
ENST00000697834.1:n.4264C>G
ENST00000697835.1:c.*3064C>G	ENSP00000513455.1:n.*3064C>G
ENST00000697836.1:n.3900C>G
ENST00000697837.1:c.*662C>G	ENSP00000513456.1:n.*662C>G
ENST00000697838.1:c.3411C>G	ENSP00000513457.1:p.Phe1137Leu
ENST00000697839.1:n.4358C>G
ENST00000697840.1:c.3582C>G	ENSP00000513458.1:p.Phe1194Leu
ENST00000697841.1:n.4457C>G
ENST00000697842.1:n.3801C>G
ENST00000375394.7:c.3546C>G MANE Select	ENSP00000364543.2:p.Phe1182Leu
ENST00000375394.6:c.3546C>G	ENSP00000364543.2:p.Phe1182Leu
ENST00000465703.5:n.4276C>G
ENST00000470453.1:n.388C>G
ENST00000471818.1:n.475C>G
ENST00000474839.5:c.*2918C>G	ENSP00000420470.1:n.*2918C>G
ENST00000483553.5:c.1076C>G
ENST00000491994.1:c.635C>G
NM_006929.4:c.3546C>G	NP_008860.4:p.Phe1182Leu
XR_926301.3:n.3562C>G
NM_006929.5:c.3546C>G MANE Select	NP_008860.4:p.Phe1182Leu