Canonical Allele Identifier: CA363490284

Gene: SKIC2

Linked Data

• gnomAD v4: 6-31969401-A-G
• MyVariant Identifiers: chr6:g.31937178A>G (hg19) ; chr6:g.31969401A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969401A>G , CM000668.2:g.31969401A>G	GRCh38
NC_000006.11:g.31937178A>G , CM000668.1:g.31937178A>G	GRCh37
NC_000006.10:g.32045157A>G	NCBI36
NG_032652.1:g.15598A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2475A>G	ENSP00000419905.1:n.*2475A>G
ENST00000483553.6:c.*488A>G	ENSP00000420332.2:n.*488A>G
ENST00000485349.6:n.3997A>G
ENST00000491994.2:c.3521A>G	ENSP00000417586.2:p.Tyr1174Cys
ENST00000494058.6:n.3823A>G
ENST00000697831.1:c.3452A>G	ENSP00000513453.1:p.Tyr1151Cys
ENST00000697832.1:n.3674A>G
ENST00000697833.1:c.*469A>G	ENSP00000513454.1:n.*469A>G
ENST00000697834.1:n.4145A>G
ENST00000697835.1:c.*3039A>G	ENSP00000513455.1:n.*3039A>G
ENST00000697836.1:n.3852A>G
ENST00000697837.1:c.*637A>G	ENSP00000513456.1:n.*637A>G
ENST00000697838.1:c.3386A>G	ENSP00000513457.1:p.Tyr1129Cys
ENST00000697839.1:n.4239A>G
ENST00000697840.1:c.3557A>G	ENSP00000513458.1:p.Tyr1186Cys
ENST00000697841.1:n.4338A>G
ENST00000697842.1:n.3776A>G
ENST00000375394.7:c.3521A>G MANE Select	ENSP00000364543.2:p.Tyr1174Cys
ENST00000375394.6:c.3521A>G	ENSP00000364543.2:p.Tyr1174Cys
ENST00000465703.5:n.4157A>G
ENST00000470453.1:n.382+85A>G
ENST00000471818.1:n.450A>G
ENST00000474839.5:c.*2893A>G	ENSP00000420470.1:n.*2893A>G
ENST00000483553.5:c.957A>G
ENST00000485349.5:n.727A>G
ENST00000491994.1:c.516A>G
NM_006929.4:c.3521A>G	NP_008860.4:p.Tyr1174Cys
XR_001743586.2:n.3620A>G
XR_926301.3:n.3537A>G
NM_006929.5:c.3521A>G MANE Select	NP_008860.4:p.Tyr1174Cys