Canonical Allele Identifier: CA363490444

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937195A>T (hg19) ; chr6:g.31969418A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969418A>T , CM000668.2:g.31969418A>T	GRCh38
NC_000006.11:g.31937195A>T , CM000668.1:g.31937195A>T	GRCh37
NC_000006.10:g.32045174A>T	NCBI36
NG_032652.1:g.15615A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2492A>T	ENSP00000419905.1:n.*2492A>T
ENST00000483553.6:c.*505A>T	ENSP00000420332.2:n.*505A>T
ENST00000485349.6:n.4014A>T
ENST00000491994.2:c.3538A>T	ENSP00000417586.2:p.Met1180Leu
ENST00000494058.6:n.3840A>T
ENST00000697831.1:c.3469A>T	ENSP00000513453.1:p.Met1157Leu
ENST00000697832.1:n.3691A>T
ENST00000697833.1:c.*486A>T	ENSP00000513454.1:n.*486A>T
ENST00000697834.1:n.4162A>T
ENST00000697835.1:c.*3056A>T	ENSP00000513455.1:n.*3056A>T
ENST00000697836.1:n.3869A>T
ENST00000697837.1:c.*654A>T	ENSP00000513456.1:n.*654A>T
ENST00000697838.1:c.3403A>T	ENSP00000513457.1:p.Met1135Leu
ENST00000697839.1:n.4256A>T
ENST00000697840.1:c.3574A>T	ENSP00000513458.1:p.Met1192Leu
ENST00000697841.1:n.4355A>T
ENST00000697842.1:n.3793A>T
ENST00000375394.7:c.3538A>T MANE Select	ENSP00000364543.2:p.Met1180Leu
ENST00000375394.6:c.3538A>T	ENSP00000364543.2:p.Met1180Leu
ENST00000465703.5:n.4174A>T
ENST00000470453.1:n.383-97A>T
ENST00000471818.1:n.467A>T
ENST00000474839.5:c.*2910A>T	ENSP00000420470.1:n.*2910A>T
ENST00000483553.5:c.974A>T
ENST00000491994.1:c.533A>T
NM_006929.4:c.3538A>T	NP_008860.4:p.Met1180Leu
XR_001743586.2:n.3637A>T
XR_926301.3:n.3554A>T
NM_006929.5:c.3538A>T MANE Select	NP_008860.4:p.Met1180Leu