Canonical Allele Identifier: CA363490292

Gene: SKIC2

Linked Data

• gnomAD v4: 6-31969402-T-G
• MyVariant Identifiers: chr6:g.31937179T>G (hg19) ; chr6:g.31969402T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969402T>G , CM000668.2:g.31969402T>G	GRCh38
NC_000006.11:g.31937179T>G , CM000668.1:g.31937179T>G	GRCh37
NC_000006.10:g.32045158T>G	NCBI36
NG_032652.1:g.15599T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2476T>G	ENSP00000419905.1:n.*2476T>G
ENST00000483553.6:c.*489T>G	ENSP00000420332.2:n.*489T>G
ENST00000485349.6:n.3998T>G
ENST00000491994.2:c.3522T>G	ENSP00000417586.2:p.Tyr1174Ter
ENST00000494058.6:n.3824T>G
ENST00000697831.1:c.3453T>G	ENSP00000513453.1:p.Tyr1151Ter
ENST00000697832.1:n.3675T>G
ENST00000697833.1:c.*470T>G	ENSP00000513454.1:n.*470T>G
ENST00000697834.1:n.4146T>G
ENST00000697835.1:c.*3040T>G	ENSP00000513455.1:n.*3040T>G
ENST00000697836.1:n.3853T>G
ENST00000697837.1:c.*638T>G	ENSP00000513456.1:n.*638T>G
ENST00000697838.1:c.3387T>G	ENSP00000513457.1:p.Tyr1129Ter
ENST00000697839.1:n.4240T>G
ENST00000697840.1:c.3558T>G	ENSP00000513458.1:p.Tyr1186Ter
ENST00000697841.1:n.4339T>G
ENST00000697842.1:n.3777T>G
ENST00000375394.7:c.3522T>G MANE Select	ENSP00000364543.2:p.Tyr1174Ter
ENST00000375394.6:c.3522T>G	ENSP00000364543.2:p.Tyr1174Ter
ENST00000465703.5:n.4158T>G
ENST00000470453.1:n.382+86T>G
ENST00000471818.1:n.451T>G
ENST00000474839.5:c.*2894T>G	ENSP00000420470.1:n.*2894T>G
ENST00000483553.5:c.958T>G
ENST00000485349.5:n.728T>G
ENST00000491994.1:c.517T>G
NM_006929.4:c.3522T>G	NP_008860.4:p.Tyr1174Ter
XR_001743586.2:n.3621T>G
XR_926301.3:n.3538T>G
NM_006929.5:c.3522T>G MANE Select	NP_008860.4:p.Tyr1174Ter