Canonical Allele Identifier: CA3730075

Gene: SKIC2

Linked Data

• dbSNP Id: rs772678931
• ExAC: 6:31937177 T / C
• gnomAD v2: 6-31937177-T-C
• gnomAD v3: 6-31969400-T-C
• gnomAD v4: 6-31969400-T-C
• MyVariant Identifiers: chr6:g.31937177T>C (hg19) ; chr6:g.31969400T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969400T>C , CM000668.2:g.31969400T>C	GRCh38
NC_000006.11:g.31937177T>C , CM000668.1:g.31937177T>C	GRCh37
NC_000006.10:g.32045156T>C	NCBI36
NG_032652.1:g.15597T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2474T>C	ENSP00000419905.1:n.*2474T>C
ENST00000483553.6:c.*487T>C	ENSP00000420332.2:n.*487T>C
ENST00000485349.6:n.3996T>C
ENST00000491994.2:c.3520T>C	ENSP00000417586.2:p.Tyr1174His
ENST00000494058.6:n.3822T>C
ENST00000697831.1:c.3451T>C	ENSP00000513453.1:p.Tyr1151His
ENST00000697832.1:n.3673T>C
ENST00000697833.1:c.*468T>C	ENSP00000513454.1:n.*468T>C
ENST00000697834.1:n.4144T>C
ENST00000697835.1:c.*3038T>C	ENSP00000513455.1:n.*3038T>C
ENST00000697836.1:n.3851T>C
ENST00000697837.1:c.*636T>C	ENSP00000513456.1:n.*636T>C
ENST00000697838.1:c.3385T>C	ENSP00000513457.1:p.Tyr1129His
ENST00000697839.1:n.4238T>C
ENST00000697840.1:c.3556T>C	ENSP00000513458.1:p.Tyr1186His
ENST00000697841.1:n.4337T>C
ENST00000697842.1:n.3775T>C
ENST00000375394.7:c.3520T>C MANE Select	ENSP00000364543.2:p.Tyr1174His
ENST00000375394.6:c.3520T>C	ENSP00000364543.2:p.Tyr1174His
ENST00000465703.5:n.4156T>C
ENST00000470453.1:n.382+84T>C
ENST00000471818.1:n.449T>C
ENST00000474839.5:c.*2892T>C	ENSP00000420470.1:n.*2892T>C
ENST00000483553.5:c.956T>C
ENST00000485349.5:n.726T>C
ENST00000491994.1:c.515T>C
NM_006929.4:c.3520T>C	NP_008860.4:p.Tyr1174His
XR_001743586.2:n.3619T>C
XR_926301.3:n.3536T>C
NM_006929.5:c.3520T>C MANE Select	NP_008860.4:p.Tyr1174His