Canonical Allele Identifier: CA128908

Gene: SKIC2

Linked Data

• ClinVar Variation Id: 30070
• ClinVar RCV Id: RCV000022973 ; RCV000059689
• dbSNP Id: rs281875237
• MyVariant Identifiers: chr6:g.31929789T>G (hg19) ; chr6:g.31962012T>G (hg38)
• PubMed: PMID:22444670

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31962012T>G , CM000668.2:g.31962012T>G	GRCh38
NC_000006.11:g.31929789T>G , CM000668.1:g.31929789T>G	GRCh37
NC_000006.10:g.32037768T>G	NCBI36
NG_032652.1:g.8209T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461073.6:c.*138T>G	ENSP00000419905.1:n.*138T>G
ENST00000483553.6:c.1022T>G	ENSP00000420332.2:p.Val341Gly
ENST00000485349.6:n.1063T>G
ENST00000491994.2:c.1022T>G	ENSP00000417586.2:p.Val341Gly
ENST00000494058.6:n.1079T>G
ENST00000697831.1:c.1022T>G	ENSP00000513453.1:p.Val341Gly
ENST00000697832.1:n.1098T>G
ENST00000697833.1:c.1022T>G	ENSP00000513454.1:p.Val341Gly
ENST00000697834.1:n.1074T>G
ENST00000697835.1:c.*540T>G	ENSP00000513455.1:n.*540T>G
ENST00000697836.1:n.1058T>G
ENST00000697837.1:c.1022T>G	ENSP00000513456.1:p.Val341Gly
ENST00000697838.1:c.887T>G	ENSP00000513457.1:p.Val296Gly
ENST00000697839.1:n.1305T>G
ENST00000697840.1:c.1058T>G	ENSP00000513458.1:p.Val353Gly
ENST00000697841.1:n.1594T>G
ENST00000697842.1:n.1022T>G
ENST00000375394.7:c.1022T>G MANE Select	ENSP00000364543.2:p.Val341Gly
ENST00000375394.6:c.1022T>G	ENSP00000364543.2:p.Val341Gly
ENST00000461073.5:c.*138T>G	ENSP00000419905.1:n.*138T>G
ENST00000465703.5:n.1335T>G
ENST00000466290.1:n.283T>G
ENST00000474839.5:c.*394T>G	ENSP00000420470.1:n.*394T>G
NM_006929.4:c.1022T>G	NP_008860.4:p.Val341Gly
XM_006715168.2:c.1022T>G	XP_006715231.1:p.Val341Gly
XM_011514815.1:c.1022T>G	XP_011513117.1:p.Val341Gly
XR_926301.1:n.1110T>G
XM_011514815.3:c.1022T>G	XP_011513117.1:p.Val341Gly
XR_001743586.2:n.1058T>G
XR_926301.3:n.1058T>G
NM_006929.5:c.1022T>G MANE Select	NP_008860.4:p.Val341Gly