Canonical Allele Identifier: CA3730071

Gene: SKIC2

Linked Data

• dbSNP Id: rs770272489
• ExAC: 6:31937142 T / C
• gnomAD v2: 6-31937142-T-C
• gnomAD v3: 6-31969365-T-C
• gnomAD v4: 6-31969365-T-C
• MyVariant Identifiers: chr6:g.31937142T>C (hg19) ; chr6:g.31969365T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969365T>C , CM000668.2:g.31969365T>C	GRCh38
NC_000006.11:g.31937142T>C , CM000668.1:g.31937142T>C	GRCh37
NC_000006.10:g.32045121T>C	NCBI36
NG_032652.1:g.15562T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2439T>C	ENSP00000419905.1:n.*2439T>C
ENST00000483553.6:c.*452T>C	ENSP00000420332.2:n.*452T>C
ENST00000485349.6:n.3961T>C
ENST00000491994.2:c.3485T>C	ENSP00000417586.2:p.Val1162Ala
ENST00000494058.6:n.3787T>C
ENST00000697831.1:c.3416T>C	ENSP00000513453.1:p.Val1139Ala
ENST00000697832.1:n.3638T>C
ENST00000697833.1:c.*433T>C	ENSP00000513454.1:n.*433T>C
ENST00000697834.1:n.4109T>C
ENST00000697835.1:c.*3003T>C	ENSP00000513455.1:n.*3003T>C
ENST00000697836.1:n.3816T>C
ENST00000697837.1:c.*601T>C	ENSP00000513456.1:n.*601T>C
ENST00000697838.1:c.3350T>C	ENSP00000513457.1:p.Val1117Ala
ENST00000697839.1:n.4203T>C
ENST00000697840.1:c.3521T>C	ENSP00000513458.1:p.Val1174Ala
ENST00000697841.1:n.4302T>C
ENST00000697842.1:n.3740T>C
ENST00000375394.7:c.3485T>C MANE Select	ENSP00000364543.2:p.Val1162Ala
ENST00000375394.6:c.3485T>C	ENSP00000364543.2:p.Val1162Ala
ENST00000465703.5:n.4121T>C
ENST00000470453.1:n.382+49T>C
ENST00000471818.1:n.414T>C
ENST00000474839.5:c.*2857T>C	ENSP00000420470.1:n.*2857T>C
ENST00000483553.5:c.921T>C
ENST00000485349.5:n.691T>C
ENST00000491994.1:c.480T>C
NM_006929.4:c.3485T>C	NP_008860.4:p.Val1162Ala
XR_001743586.2:n.3584T>C
XR_926301.3:n.3501T>C
NM_006929.5:c.3485T>C MANE Select	NP_008860.4:p.Val1162Ala