Canonical Allele Identifier: CA363492589

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937483C>G (hg19) ; chr6:g.31969706C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969706C>G , CM000668.2:g.31969706C>G	GRCh38
NC_000006.11:g.31937483C>G , CM000668.1:g.31937483C>G	GRCh37
NC_000006.10:g.32045462C>G	NCBI36
NG_032652.1:g.15903C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2780C>G	ENSP00000419905.1:n.*2780C>G
ENST00000485349.6:n.4208C>G
ENST00000491994.2:c.*274C>G	ENSP00000417586.2:n.*274C>G
ENST00000494058.6:n.4034C>G
ENST00000697831.1:c.3663C>G	ENSP00000513453.1:p.Tyr1221Ter
ENST00000697832.1:n.3885C>G
ENST00000697834.1:n.4450C>G
ENST00000697835.1:c.*3250C>G	ENSP00000513455.1:n.*3250C>G
ENST00000697837.1:c.*848C>G	ENSP00000513456.1:n.*848C>G
ENST00000697838.1:c.3597C>G	ENSP00000513457.1:p.Tyr1199Ter
ENST00000697839.1:n.4544C>G
ENST00000697840.1:c.3768C>G	ENSP00000513458.1:p.Tyr1256Ter
ENST00000697841.1:n.4643C>G
ENST00000697842.1:n.3987C>G
ENST00000375394.7:c.3732C>G MANE Select	ENSP00000364543.2:p.Tyr1244Ter
ENST00000375394.6:c.3732C>G	ENSP00000364543.2:p.Tyr1244Ter
ENST00000465703.5:n.4462C>G
ENST00000471818.1:n.661C>G
ENST00000474839.5:c.*3104C>G	ENSP00000420470.1:n.*3104C>G
ENST00000483553.5:c.1262C>G
ENST00000491994.1:c.821C>G
NM_006929.4:c.3732C>G	NP_008860.4:p.Tyr1244Ter
XR_926301.3:n.3748C>G
NM_006929.5:c.3732C>G MANE Select	NP_008860.4:p.Tyr1244Ter