Canonical Allele Identifier: CA449814086
Gene: SKIC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.31937327T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31969550T>A , CM000668.2:g.31969550T>A GRCh38
NC_000006.11:g.31937327T>A , CM000668.1:g.31937327T>A GRCh37
NC_000006.10:g.32045306T>A NCBI36
NG_032652.1:g.15747T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000461073.6:c.*2624T>A ENSP00000419905.1:n.*2624T>A
ENST00000485349.6:n.4052T>A
ENST00000491994.2:c.*118T>A ENSP00000417586.2:n.*118T>A
ENST00000494058.6:n.3878T>A
ENST00000697831.1:c.3507T>A ENSP00000513453.1:p.Pro1169=
ENST00000697832.1:n.3729T>A
ENST00000697833.1:c.*524T>A ENSP00000513454.1:n.*524T>A
ENST00000697834.1:n.4294T>A
ENST00000697835.1:c.*3094T>A ENSP00000513455.1:n.*3094T>A
ENST00000697836.1:n.3930T>A
ENST00000697837.1:c.*692T>A ENSP00000513456.1:n.*692T>A
ENST00000697838.1:c.3441T>A ENSP00000513457.1:p.Pro1147=
ENST00000697839.1:n.4388T>A
ENST00000697840.1:c.3612T>A ENSP00000513458.1:p.Pro1204=
ENST00000697841.1:n.4487T>A
ENST00000697842.1:n.3831T>A
ENST00000375394.7:c.3576T>A MANE Select ENSP00000364543.2:p.Pro1192=
ENST00000375394.6:c.3576T>A ENSP00000364543.2:p.Pro1192=
ENST00000465703.5:n.4306T>A
ENST00000470453.1:n.418T>A
ENST00000471818.1:n.505T>A
ENST00000474839.5:c.*2948T>A ENSP00000420470.1:n.*2948T>A
ENST00000483553.5:c.1106T>A
ENST00000491994.1:c.665T>A
NM_006929.4:c.3576T>A NP_008860.4:p.Pro1192=
XR_926301.3:n.3592T>A
NM_006929.5:c.3576T>A MANE Select NP_008860.4:p.Pro1192=