Canonical Allele Identifier: CA3729097

Gene: SKIC2

Linked Data

• ClinVar Variation Id: 356312
• ClinVar RCV Id: RCV000380945 ; RCV001850891
• dbSNP Id: rs146717555
• ExAC: 6:31928014 C / T
• gnomAD v2: 6-31928014-C-T
• gnomAD v3: 6-31960237-C-T
• gnomAD v4: 6-31960237-C-T
• COSMIC: COSM483885 ; COSM3861901
• MyVariant Identifiers: chr6:g.31928014C>T (hg19) ; chr6:g.31960237C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31960237C>T , CM000668.2:g.31960237C>T	GRCh38
NC_000006.11:g.31928014C>T , CM000668.1:g.31928014C>T	GRCh37
NC_000006.10:g.32035993C>T	NCBI36
NG_032652.1:g.6434C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.254C>T	ENSP00000419905.1:p.Thr85Met
ENST00000483553.6:c.254C>T	ENSP00000420332.2:p.Thr85Met
ENST00000485349.6:n.295C>T
ENST00000491994.2:c.254C>T	ENSP00000417586.2:p.Thr85Met
ENST00000494058.6:n.311C>T
ENST00000697831.1:c.254C>T	ENSP00000513453.1:p.Thr85Met
ENST00000697832.1:n.330C>T
ENST00000697833.1:c.254C>T	ENSP00000513454.1:p.Thr85Met
ENST00000697834.1:n.306C>T
ENST00000697835.1:c.273C>T	ENSP00000513455.1:p.Asp91=
ENST00000697836.1:n.290C>T
ENST00000697837.1:c.254C>T	ENSP00000513456.1:p.Thr85Met
ENST00000697838.1:c.119C>T	ENSP00000513457.1:p.Thr40Met
ENST00000697839.1:n.276C>T
ENST00000697840.1:c.254C>T	ENSP00000513458.1:p.Thr85Met
ENST00000697841.1:n.265C>T
ENST00000697842.1:n.254C>T
ENST00000375394.7:c.254C>T MANE Select	ENSP00000364543.2:p.Thr85Met
ENST00000375394.6:c.254C>T	ENSP00000364543.2:p.Thr85Met
ENST00000461073.5:c.254C>T	ENSP00000419905.1:p.Thr85Met
ENST00000465703.5:n.306C>T
ENST00000474839.5:c.127-804C>T	ENSP00000420470.1:n.127-804C>T
ENST00000488648.5:n.330C>T
ENST00000628157.1:c.127-804C>T	ENSP00000485707.1:n.127-804C>T
NM_006929.4:c.254C>T	NP_008860.4:p.Thr85Met
XM_006715168.2:c.254C>T	XP_006715231.1:p.Thr85Met
XM_011514815.1:c.254C>T	XP_011513117.1:p.Thr85Met
XR_926301.1:n.342C>T
XM_011514815.3:c.254C>T	XP_011513117.1:p.Thr85Met
XR_001743586.2:n.290C>T
XR_926301.3:n.290C>T
NM_006929.5:c.254C>T MANE Select	NP_008860.4:p.Thr85Met