Canonical Allele Identifier: CA449814108

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937342C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969565C>T , CM000668.2:g.31969565C>T	GRCh38
NC_000006.11:g.31937342C>T , CM000668.1:g.31937342C>T	GRCh37
NC_000006.10:g.32045321C>T	NCBI36
NG_032652.1:g.15762C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2639C>T	ENSP00000419905.1:n.*2639C>T
ENST00000485349.6:n.4067C>T
ENST00000491994.2:c.*133C>T	ENSP00000417586.2:n.*133C>T
ENST00000494058.6:n.3893C>T
ENST00000697831.1:c.3522C>T	ENSP00000513453.1:p.Val1174=
ENST00000697832.1:n.3744C>T
ENST00000697833.1:c.*539C>T	ENSP00000513454.1:n.*539C>T
ENST00000697834.1:n.4309C>T
ENST00000697835.1:c.*3109C>T	ENSP00000513455.1:n.*3109C>T
ENST00000697836.1:n.3945C>T
ENST00000697837.1:c.*707C>T	ENSP00000513456.1:n.*707C>T
ENST00000697838.1:c.3456C>T	ENSP00000513457.1:p.Val1152=
ENST00000697839.1:n.4403C>T
ENST00000697840.1:c.3627C>T	ENSP00000513458.1:p.Val1209=
ENST00000697841.1:n.4502C>T
ENST00000697842.1:n.3846C>T
ENST00000375394.7:c.3591C>T MANE Select	ENSP00000364543.2:p.Val1197=
ENST00000375394.6:c.3591C>T	ENSP00000364543.2:p.Val1197=
ENST00000465703.5:n.4321C>T
ENST00000470453.1:n.433C>T
ENST00000471818.1:n.520C>T
ENST00000474839.5:c.*2963C>T	ENSP00000420470.1:n.*2963C>T
ENST00000483553.5:c.1121C>T
ENST00000491994.1:c.680C>T
NM_006929.4:c.3591C>T	NP_008860.4:p.Val1197=
XR_926301.3:n.3607C>T
NM_006929.5:c.3591C>T MANE Select	NP_008860.4:p.Val1197=