Canonical Allele Identifier: CA449814075
Gene: SKIC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.31937321G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31969544G>T , CM000668.2:g.31969544G>T GRCh38
NC_000006.11:g.31937321G>T , CM000668.1:g.31937321G>T GRCh37
NC_000006.10:g.32045300G>T NCBI36
NG_032652.1:g.15741G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000461073.6:c.*2618G>T ENSP00000419905.1:n.*2618G>T
ENST00000485349.6:n.4046G>T
ENST00000491994.2:c.*112G>T ENSP00000417586.2:n.*112G>T
ENST00000494058.6:n.3872G>T
ENST00000697831.1:c.3501G>T ENSP00000513453.1:p.Gly1167=
ENST00000697832.1:n.3723G>T
ENST00000697833.1:c.*518G>T ENSP00000513454.1:n.*518G>T
ENST00000697834.1:n.4288G>T
ENST00000697835.1:c.*3088G>T ENSP00000513455.1:n.*3088G>T
ENST00000697836.1:n.3924G>T
ENST00000697837.1:c.*686G>T ENSP00000513456.1:n.*686G>T
ENST00000697838.1:c.3435G>T ENSP00000513457.1:p.Gly1145=
ENST00000697839.1:n.4382G>T
ENST00000697840.1:c.3606G>T ENSP00000513458.1:p.Gly1202=
ENST00000697841.1:n.4481G>T
ENST00000697842.1:n.3825G>T
ENST00000375394.7:c.3570G>T MANE Select ENSP00000364543.2:p.Gly1190=
ENST00000375394.6:c.3570G>T ENSP00000364543.2:p.Gly1190=
ENST00000465703.5:n.4300G>T
ENST00000470453.1:n.412G>T
ENST00000471818.1:n.499G>T
ENST00000474839.5:c.*2942G>T ENSP00000420470.1:n.*2942G>T
ENST00000483553.5:c.1100G>T
ENST00000491994.1:c.659G>T
NM_006929.4:c.3570G>T NP_008860.4:p.Gly1190=
XR_926301.3:n.3586G>T
NM_006929.5:c.3570G>T MANE Select NP_008860.4:p.Gly1190=