Canonical Allele Identifier: CA363450948

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31930280T>A (hg19) ; chr6:g.31962503T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31962503T>A , CM000668.2:g.31962503T>A	GRCh38
NC_000006.11:g.31930280T>A , CM000668.1:g.31930280T>A	GRCh37
NC_000006.10:g.32038259T>A	NCBI36
NG_032652.1:g.8700T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000461073.6:c.*245T>A	ENSP00000419905.1:n.*245T>A
ENST00000483553.6:c.1129T>A	ENSP00000420332.2:p.Phe377Ile
ENST00000485349.6:n.1170T>A
ENST00000491994.2:c.1129T>A	ENSP00000417586.2:p.Phe377Ile
ENST00000494058.6:n.1186T>A
ENST00000697831.1:c.1129T>A	ENSP00000513453.1:p.Phe377Ile
ENST00000697832.1:n.1205T>A
ENST00000697833.1:c.1129T>A	ENSP00000513454.1:p.Phe377Ile
ENST00000697834.1:n.1181T>A
ENST00000697835.1:c.*647T>A	ENSP00000513455.1:n.*647T>A
ENST00000697836.1:n.1165T>A
ENST00000697837.1:c.1129T>A	ENSP00000513456.1:p.Phe377Ile
ENST00000697838.1:c.994T>A	ENSP00000513457.1:p.Phe332Ile
ENST00000697839.1:n.1412T>A
ENST00000697840.1:c.1165T>A	ENSP00000513458.1:p.Phe389Ile
ENST00000697841.1:n.1701T>A
ENST00000697842.1:n.1129T>A
ENST00000375394.7:c.1129T>A MANE Select	ENSP00000364543.2:p.Phe377Ile
ENST00000375394.6:c.1129T>A	ENSP00000364543.2:p.Phe377Ile
ENST00000461073.5:c.*245T>A	ENSP00000419905.1:n.*245T>A
ENST00000465703.5:n.1442T>A
ENST00000466290.1:n.390T>A
ENST00000474839.5:c.*501T>A	ENSP00000420470.1:n.*501T>A
NM_006929.4:c.1129T>A	NP_008860.4:p.Phe377Ile
XM_006715168.2:c.1129T>A	XP_006715231.1:p.Phe377Ile
XM_011514815.1:c.1129T>A	XP_011513117.1:p.Phe377Ile
XR_926301.1:n.1217T>A
XM_011514815.3:c.1129T>A	XP_011513117.1:p.Phe377Ile
XR_001743586.2:n.1165T>A
XR_926301.3:n.1165T>A
NM_006929.5:c.1129T>A MANE Select	NP_008860.4:p.Phe377Ile