Canonical Allele Identifier: CA363489767

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937106T>G (hg19) ; chr6:g.31969329T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969329T>G , CM000668.2:g.31969329T>G	GRCh38
NC_000006.11:g.31937106T>G , CM000668.1:g.31937106T>G	GRCh37
NC_000006.10:g.32045085T>G	NCBI36
NG_032652.1:g.15526T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2403T>G	ENSP00000419905.1:n.*2403T>G
ENST00000483553.6:c.*416T>G	ENSP00000420332.2:n.*416T>G
ENST00000485349.6:n.3925T>G
ENST00000491994.2:c.3449T>G	ENSP00000417586.2:p.Val1150Gly
ENST00000494058.6:n.3751T>G
ENST00000697831.1:c.3380T>G	ENSP00000513453.1:p.Val1127Gly
ENST00000697832.1:n.3602T>G
ENST00000697833.1:c.*397T>G	ENSP00000513454.1:n.*397T>G
ENST00000697834.1:n.4073T>G
ENST00000697835.1:c.*2967T>G	ENSP00000513455.1:n.*2967T>G
ENST00000697836.1:n.3780T>G
ENST00000697837.1:c.*565T>G	ENSP00000513456.1:n.*565T>G
ENST00000697838.1:c.3314T>G	ENSP00000513457.1:p.Val1105Gly
ENST00000697839.1:n.4167T>G
ENST00000697840.1:c.3485T>G	ENSP00000513458.1:p.Val1162Gly
ENST00000697841.1:n.4266T>G
ENST00000697842.1:n.3704T>G
ENST00000375394.7:c.3449T>G MANE Select	ENSP00000364543.2:p.Val1150Gly
ENST00000375394.6:c.3449T>G	ENSP00000364543.2:p.Val1150Gly
ENST00000465703.5:n.4085T>G
ENST00000470453.1:n.382+13T>G
ENST00000471818.1:n.378T>G
ENST00000474839.5:c.*2821T>G	ENSP00000420470.1:n.*2821T>G
ENST00000483553.5:c.885T>G
ENST00000485349.5:n.655T>G
ENST00000491994.1:c.444T>G
NM_006929.4:c.3449T>G	NP_008860.4:p.Val1150Gly
XR_001743586.2:n.3548T>G
XR_926301.3:n.3465T>G
NM_006929.5:c.3449T>G MANE Select	NP_008860.4:p.Val1150Gly