Canonical Allele Identifier: CA449814160
Gene: SKIC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.31937390A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31969613A>T , CM000668.2:g.31969613A>T GRCh38
NC_000006.11:g.31937390A>T , CM000668.1:g.31937390A>T GRCh37
NC_000006.10:g.32045369A>T NCBI36
NG_032652.1:g.15810A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000461073.6:c.*2687A>T ENSP00000419905.1:n.*2687A>T
ENST00000485349.6:n.4115A>T
ENST00000491994.2:c.*181A>T ENSP00000417586.2:n.*181A>T
ENST00000494058.6:n.3941A>T
ENST00000697831.1:c.3570A>T ENSP00000513453.1:p.Ala1190=
ENST00000697832.1:n.3792A>T
ENST00000697834.1:n.4357A>T
ENST00000697835.1:c.*3157A>T ENSP00000513455.1:n.*3157A>T
ENST00000697836.1:n.3993A>T
ENST00000697837.1:c.*755A>T ENSP00000513456.1:n.*755A>T
ENST00000697838.1:c.3504A>T ENSP00000513457.1:p.Ala1168=
ENST00000697839.1:n.4451A>T
ENST00000697840.1:c.3675A>T ENSP00000513458.1:p.Ala1225=
ENST00000697841.1:n.4550A>T
ENST00000697842.1:n.3894A>T
ENST00000375394.7:c.3639A>T MANE Select ENSP00000364543.2:p.Ala1213=
ENST00000375394.6:c.3639A>T ENSP00000364543.2:p.Ala1213=
ENST00000465703.5:n.4369A>T
ENST00000471818.1:n.568A>T
ENST00000474839.5:c.*3011A>T ENSP00000420470.1:n.*3011A>T
ENST00000483553.5:c.1169A>T
ENST00000491994.1:c.728A>T
NM_006929.4:c.3639A>T NP_008860.4:p.Ala1213=
XR_926301.3:n.3655A>T
NM_006929.5:c.3639A>T MANE Select NP_008860.4:p.Ala1213=