Canonical Allele Identifier: CA363450919

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31930278C>A (hg19) ; chr6:g.31962501C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31962501C>A , CM000668.2:g.31962501C>A	GRCh38
NC_000006.11:g.31930278C>A , CM000668.1:g.31930278C>A	GRCh37
NC_000006.10:g.32038257C>A	NCBI36
NG_032652.1:g.8698C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*243C>A	ENSP00000419905.1:n.*243C>A
ENST00000483553.6:c.1127C>A	ENSP00000420332.2:p.Thr376Lys
ENST00000485349.6:n.1168C>A
ENST00000491994.2:c.1127C>A	ENSP00000417586.2:p.Thr376Lys
ENST00000494058.6:n.1184C>A
ENST00000697831.1:c.1127C>A	ENSP00000513453.1:p.Thr376Lys
ENST00000697832.1:n.1203C>A
ENST00000697833.1:c.1127C>A	ENSP00000513454.1:p.Thr376Lys
ENST00000697834.1:n.1179C>A
ENST00000697835.1:c.*645C>A	ENSP00000513455.1:n.*645C>A
ENST00000697836.1:n.1163C>A
ENST00000697837.1:c.1127C>A	ENSP00000513456.1:p.Thr376Lys
ENST00000697838.1:c.992C>A	ENSP00000513457.1:p.Thr331Lys
ENST00000697839.1:n.1410C>A
ENST00000697840.1:c.1163C>A	ENSP00000513458.1:p.Thr388Lys
ENST00000697841.1:n.1699C>A
ENST00000697842.1:n.1127C>A
ENST00000375394.7:c.1127C>A MANE Select	ENSP00000364543.2:p.Thr376Lys
ENST00000375394.6:c.1127C>A	ENSP00000364543.2:p.Thr376Lys
ENST00000461073.5:c.*243C>A	ENSP00000419905.1:n.*243C>A
ENST00000465703.5:n.1440C>A
ENST00000466290.1:n.388C>A
ENST00000474839.5:c.*499C>A	ENSP00000420470.1:n.*499C>A
NM_006929.4:c.1127C>A	NP_008860.4:p.Thr376Lys
XM_006715168.2:c.1127C>A	XP_006715231.1:p.Thr376Lys
XM_011514815.1:c.1127C>A	XP_011513117.1:p.Thr376Lys
XR_926301.1:n.1215C>A
XM_011514815.3:c.1127C>A	XP_011513117.1:p.Thr376Lys
XR_001743586.2:n.1163C>A
XR_926301.3:n.1163C>A
NM_006929.5:c.1127C>A MANE Select	NP_008860.4:p.Thr376Lys