Canonical Allele Identifier: CA363492584

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937482A>G (hg19) ; chr6:g.31969705A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969705A>G , CM000668.2:g.31969705A>G	GRCh38
NC_000006.11:g.31937482A>G , CM000668.1:g.31937482A>G	GRCh37
NC_000006.10:g.32045461A>G	NCBI36
NG_032652.1:g.15902A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2779A>G	ENSP00000419905.1:n.*2779A>G
ENST00000485349.6:n.4207A>G
ENST00000491994.2:c.*273A>G	ENSP00000417586.2:n.*273A>G
ENST00000494058.6:n.4033A>G
ENST00000697831.1:c.3662A>G	ENSP00000513453.1:p.Tyr1221Cys
ENST00000697832.1:n.3884A>G
ENST00000697834.1:n.4449A>G
ENST00000697835.1:c.*3249A>G	ENSP00000513455.1:n.*3249A>G
ENST00000697837.1:c.*847A>G	ENSP00000513456.1:n.*847A>G
ENST00000697838.1:c.3596A>G	ENSP00000513457.1:p.Tyr1199Cys
ENST00000697839.1:n.4543A>G
ENST00000697840.1:c.3767A>G	ENSP00000513458.1:p.Tyr1256Cys
ENST00000697841.1:n.4642A>G
ENST00000697842.1:n.3986A>G
ENST00000375394.7:c.3731A>G MANE Select	ENSP00000364543.2:p.Tyr1244Cys
ENST00000375394.6:c.3731A>G	ENSP00000364543.2:p.Tyr1244Cys
ENST00000465703.5:n.4461A>G
ENST00000471818.1:n.660A>G
ENST00000474839.5:c.*3103A>G	ENSP00000420470.1:n.*3103A>G
ENST00000483553.5:c.1261A>G
ENST00000491994.1:c.820A>G
NM_006929.4:c.3731A>G	NP_008860.4:p.Tyr1244Cys
XR_926301.3:n.3747A>G
NM_006929.5:c.3731A>G MANE Select	NP_008860.4:p.Tyr1244Cys