Canonical Allele Identifier: CA363433864

Gene: SKIC2

Linked Data

• dbSNP Id: rs1772372447
• gnomAD v3: 6-31960022-C-T
• gnomAD v4: 6-31960022-C-T
• MyVariant Identifiers: chr6:g.31927799C>T (hg19) ; chr6:g.31960022C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31960022C>T , CM000668.2:g.31960022C>T	GRCh38
NC_000006.11:g.31927799C>T , CM000668.1:g.31927799C>T	GRCh37
NC_000006.10:g.32035778C>T	NCBI36
NG_032652.1:g.6219C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.139C>T	ENSP00000419905.1:p.Leu47Phe
ENST00000483553.6:c.139C>T	ENSP00000420332.2:p.Leu47Phe
ENST00000485349.6:n.180C>T
ENST00000491994.2:c.139C>T	ENSP00000417586.2:p.Leu47Phe
ENST00000494058.6:n.196C>T
ENST00000697831.1:c.139C>T	ENSP00000513453.1:p.Leu47Phe
ENST00000697832.1:n.215C>T
ENST00000697833.1:c.139C>T	ENSP00000513454.1:p.Leu47Phe
ENST00000697834.1:n.191C>T
ENST00000697835.1:c.139C>T	ENSP00000513455.1:p.Leu47Phe
ENST00000697836.1:n.175C>T
ENST00000697837.1:c.139C>T	ENSP00000513456.1:p.Leu47Phe
ENST00000697838.1:c.23-19C>T	ENSP00000513457.1:n.23-19C>T
ENST00000697839.1:n.161C>T
ENST00000697840.1:c.139C>T	ENSP00000513458.1:p.Leu47Phe
ENST00000697841.1:n.150C>T
ENST00000697842.1:n.139C>T
ENST00000375394.7:c.139C>T MANE Select	ENSP00000364543.2:p.Leu47Phe
ENST00000375394.6:c.139C>T	ENSP00000364543.2:p.Leu47Phe
ENST00000461073.5:c.139C>T	ENSP00000419905.1:p.Leu47Phe
ENST00000465703.5:n.191C>T
ENST00000474839.5:c.126+622C>T	ENSP00000420470.1:n.126+622C>T
ENST00000488648.5:n.215C>T
ENST00000628157.1:c.126+622C>T	ENSP00000485707.1:n.126+622C>T
NM_006929.4:c.139C>T	NP_008860.4:p.Leu47Phe
XM_006715168.2:c.139C>T	XP_006715231.1:p.Leu47Phe
XM_011514815.1:c.139C>T	XP_011513117.1:p.Leu47Phe
XR_926301.1:n.227C>T
XM_011514815.3:c.139C>T	XP_011513117.1:p.Leu47Phe
XR_001743586.2:n.175C>T
XR_926301.3:n.175C>T
NM_006929.5:c.139C>T MANE Select	NP_008860.4:p.Leu47Phe