Canonical Allele Identifier: CA3730065

Gene: SKIC2

Linked Data

• ClinVar Variation Id: 595838
• ClinVar RCV Id: RCV000731498
• dbSNP Id: rs201764098
• ExAC: 6:31937127 C / T
• gnomAD v2: 6-31937127-C-T
• gnomAD v3: 6-31969350-C-T
• gnomAD v4: 6-31969350-C-T
• COSMIC: COSM3410963 ; COSM3410964
• MyVariant Identifiers: chr6:g.31937127C>T (hg19) ; chr6:g.31937127_31937128delinsTG (hg19) ; chr6:g.31969350C>T (hg38) ; chr6:g.31969350_31969351delinsTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969350C>T , CM000668.2:g.31969350C>T	GRCh38
NC_000006.11:g.31937127C>T , CM000668.1:g.31937127C>T	GRCh37
NC_000006.10:g.32045106C>T	NCBI36
NG_032652.1:g.15547C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2424C>T	ENSP00000419905.1:n.*2424C>T
ENST00000483553.6:c.*437C>T	ENSP00000420332.2:n.*437C>T
ENST00000485349.6:n.3946C>T
ENST00000491994.2:c.3470C>T	ENSP00000417586.2:p.Thr1157Met
ENST00000494058.6:n.3772C>T
ENST00000697831.1:c.3401C>T	ENSP00000513453.1:p.Thr1134Met
ENST00000697832.1:n.3623C>T
ENST00000697833.1:c.*418C>T	ENSP00000513454.1:n.*418C>T
ENST00000697834.1:n.4094C>T
ENST00000697835.1:c.*2988C>T	ENSP00000513455.1:n.*2988C>T
ENST00000697836.1:n.3801C>T
ENST00000697837.1:c.*586C>T	ENSP00000513456.1:n.*586C>T
ENST00000697838.1:c.3335C>T	ENSP00000513457.1:p.Thr1112Met
ENST00000697839.1:n.4188C>T
ENST00000697840.1:c.3506C>T	ENSP00000513458.1:p.Thr1169Met
ENST00000697841.1:n.4287C>T
ENST00000697842.1:n.3725C>T
ENST00000375394.7:c.3470C>T MANE Select	ENSP00000364543.2:p.Thr1157Met
ENST00000375394.6:c.3470C>T	ENSP00000364543.2:p.Thr1157Met
ENST00000465703.5:n.4106C>T
ENST00000470453.1:n.382+34C>T
ENST00000471818.1:n.399C>T
ENST00000474839.5:c.*2842C>T	ENSP00000420470.1:n.*2842C>T
ENST00000483553.5:c.906C>T
ENST00000485349.5:n.676C>T
ENST00000491994.1:c.465C>T
NM_006929.4:c.3470C>T	NP_008860.4:p.Thr1157Met
XR_001743586.2:n.3569C>T
XR_926301.3:n.3486C>T
NM_006929.5:c.3470C>T MANE Select	NP_008860.4:p.Thr1157Met