Canonical Allele Identifier: CA363490481

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937197G>T (hg19) ; chr6:g.31969420G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969420G>T , CM000668.2:g.31969420G>T	GRCh38
NC_000006.11:g.31937197G>T , CM000668.1:g.31937197G>T	GRCh37
NC_000006.10:g.32045176G>T	NCBI36
NG_032652.1:g.15617G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2494G>T	ENSP00000419905.1:n.*2494G>T
ENST00000483553.6:c.*507G>T	ENSP00000420332.2:n.*507G>T
ENST00000485349.6:n.4016G>T
ENST00000491994.2:c.3540G>T	ENSP00000417586.2:p.Met1180Ile
ENST00000494058.6:n.3842G>T
ENST00000697831.1:c.3471G>T	ENSP00000513453.1:p.Met1157Ile
ENST00000697832.1:n.3693G>T
ENST00000697833.1:c.*488G>T	ENSP00000513454.1:n.*488G>T
ENST00000697834.1:n.4164G>T
ENST00000697835.1:c.*3058G>T	ENSP00000513455.1:n.*3058G>T
ENST00000697836.1:n.3871G>T
ENST00000697837.1:c.*656G>T	ENSP00000513456.1:n.*656G>T
ENST00000697838.1:c.3405G>T	ENSP00000513457.1:p.Met1135Ile
ENST00000697839.1:n.4258G>T
ENST00000697840.1:c.3576G>T	ENSP00000513458.1:p.Met1192Ile
ENST00000697841.1:n.4357G>T
ENST00000697842.1:n.3795G>T
ENST00000375394.7:c.3540G>T MANE Select	ENSP00000364543.2:p.Met1180Ile
ENST00000375394.6:c.3540G>T	ENSP00000364543.2:p.Met1180Ile
ENST00000465703.5:n.4176G>T
ENST00000470453.1:n.383-95G>T
ENST00000471818.1:n.469G>T
ENST00000474839.5:c.*2912G>T	ENSP00000420470.1:n.*2912G>T
ENST00000483553.5:c.976G>T
ENST00000491994.1:c.535G>T
NM_006929.4:c.3540G>T	NP_008860.4:p.Met1180Ile
XR_001743586.2:n.3639G>T
XR_926301.3:n.3556G>T
NM_006929.5:c.3540G>T MANE Select	NP_008860.4:p.Met1180Ile