Canonical Allele Identifier: CA363492215

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937440C>T (hg19) ; chr6:g.31969663C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969663C>T , CM000668.2:g.31969663C>T	GRCh38
NC_000006.11:g.31937440C>T , CM000668.1:g.31937440C>T	GRCh37
NC_000006.10:g.32045419C>T	NCBI36
NG_032652.1:g.15860C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2737C>T	ENSP00000419905.1:n.*2737C>T
ENST00000485349.6:n.4165C>T
ENST00000491994.2:c.*231C>T	ENSP00000417586.2:n.*231C>T
ENST00000494058.6:n.3991C>T
ENST00000697831.1:c.3620C>T	ENSP00000513453.1:p.Ala1207Val
ENST00000697832.1:n.3842C>T
ENST00000697834.1:n.4407C>T
ENST00000697835.1:c.*3207C>T	ENSP00000513455.1:n.*3207C>T
ENST00000697836.1:n.4043C>T
ENST00000697837.1:c.*805C>T	ENSP00000513456.1:n.*805C>T
ENST00000697838.1:c.3554C>T	ENSP00000513457.1:p.Ala1185Val
ENST00000697839.1:n.4501C>T
ENST00000697840.1:c.3725C>T	ENSP00000513458.1:p.Ala1242Val
ENST00000697841.1:n.4600C>T
ENST00000697842.1:n.3944C>T
ENST00000375394.7:c.3689C>T MANE Select	ENSP00000364543.2:p.Ala1230Val
ENST00000375394.6:c.3689C>T	ENSP00000364543.2:p.Ala1230Val
ENST00000465703.5:n.4419C>T
ENST00000471818.1:n.618C>T
ENST00000474839.5:c.*3061C>T	ENSP00000420470.1:n.*3061C>T
ENST00000483553.5:c.1219C>T
ENST00000491994.1:c.778C>T
NM_006929.4:c.3689C>T	NP_008860.4:p.Ala1230Val
XR_926301.3:n.3705C>T
NM_006929.5:c.3689C>T MANE Select	NP_008860.4:p.Ala1230Val