Canonical Allele Identifier: CA3730064

Gene: SKIC2

Linked Data

• ClinVar Variation Id: 356351
• ClinVar RCV Id: RCV000316698 ; RCV001850897
• dbSNP Id: rs747936095
• ExAC: 6:31937124 A / T
• gnomAD v2: 6-31937124-A-T
• gnomAD v3: 6-31969347-A-T
• gnomAD v4: 6-31969347-A-T
• MyVariant Identifiers: chr6:g.31937124A>T (hg19) ; chr6:g.31969347A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969347A>T , CM000668.2:g.31969347A>T	GRCh38
NC_000006.11:g.31937124A>T , CM000668.1:g.31937124A>T	GRCh37
NC_000006.10:g.32045103A>T	NCBI36
NG_032652.1:g.15544A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2421A>T	ENSP00000419905.1:n.*2421A>T
ENST00000483553.6:c.*434A>T	ENSP00000420332.2:n.*434A>T
ENST00000485349.6:n.3943A>T
ENST00000491994.2:c.3467A>T	ENSP00000417586.2:p.Gln1156Leu
ENST00000494058.6:n.3769A>T
ENST00000697831.1:c.3398A>T	ENSP00000513453.1:p.Gln1133Leu
ENST00000697832.1:n.3620A>T
ENST00000697833.1:c.*415A>T	ENSP00000513454.1:n.*415A>T
ENST00000697834.1:n.4091A>T
ENST00000697835.1:c.*2985A>T	ENSP00000513455.1:n.*2985A>T
ENST00000697836.1:n.3798A>T
ENST00000697837.1:c.*583A>T	ENSP00000513456.1:n.*583A>T
ENST00000697838.1:c.3332A>T	ENSP00000513457.1:p.Gln1111Leu
ENST00000697839.1:n.4185A>T
ENST00000697840.1:c.3503A>T	ENSP00000513458.1:p.Gln1168Leu
ENST00000697841.1:n.4284A>T
ENST00000697842.1:n.3722A>T
ENST00000375394.7:c.3467A>T MANE Select	ENSP00000364543.2:p.Gln1156Leu
ENST00000375394.6:c.3467A>T	ENSP00000364543.2:p.Gln1156Leu
ENST00000465703.5:n.4103A>T
ENST00000470453.1:n.382+31A>T
ENST00000471818.1:n.396A>T
ENST00000474839.5:c.*2839A>T	ENSP00000420470.1:n.*2839A>T
ENST00000483553.5:c.903A>T
ENST00000485349.5:n.673A>T
ENST00000491994.1:c.462A>T
NM_006929.4:c.3467A>T	NP_008860.4:p.Gln1156Leu
XR_001743586.2:n.3566A>T
XR_926301.3:n.3483A>T
NM_006929.5:c.3467A>T MANE Select	NP_008860.4:p.Gln1156Leu