Canonical Allele Identifier: CA449813910

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937173T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969396T>C , CM000668.2:g.31969396T>C	GRCh38
NC_000006.11:g.31937173T>C , CM000668.1:g.31937173T>C	GRCh37
NC_000006.10:g.32045152T>C	NCBI36
NG_032652.1:g.15593T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2470T>C	ENSP00000419905.1:n.*2470T>C
ENST00000483553.6:c.*483T>C	ENSP00000420332.2:n.*483T>C
ENST00000485349.6:n.3992T>C
ENST00000491994.2:c.3516T>C	ENSP00000417586.2:p.Val1172=
ENST00000494058.6:n.3818T>C
ENST00000697831.1:c.3447T>C	ENSP00000513453.1:p.Val1149=
ENST00000697832.1:n.3669T>C
ENST00000697833.1:c.*464T>C	ENSP00000513454.1:n.*464T>C
ENST00000697834.1:n.4140T>C
ENST00000697835.1:c.*3034T>C	ENSP00000513455.1:n.*3034T>C
ENST00000697836.1:n.3847T>C
ENST00000697837.1:c.*632T>C	ENSP00000513456.1:n.*632T>C
ENST00000697838.1:c.3381T>C	ENSP00000513457.1:p.Val1127=
ENST00000697839.1:n.4234T>C
ENST00000697840.1:c.3552T>C	ENSP00000513458.1:p.Val1184=
ENST00000697841.1:n.4333T>C
ENST00000697842.1:n.3771T>C
ENST00000375394.7:c.3516T>C MANE Select	ENSP00000364543.2:p.Val1172=
ENST00000375394.6:c.3516T>C	ENSP00000364543.2:p.Val1172=
ENST00000465703.5:n.4152T>C
ENST00000470453.1:n.382+80T>C
ENST00000471818.1:n.445T>C
ENST00000474839.5:c.*2888T>C	ENSP00000420470.1:n.*2888T>C
ENST00000483553.5:c.952T>C
ENST00000485349.5:n.722T>C
ENST00000491994.1:c.511T>C
NM_006929.4:c.3516T>C	NP_008860.4:p.Val1172=
XR_001743586.2:n.3615T>C
XR_926301.3:n.3532T>C
NM_006929.5:c.3516T>C MANE Select	NP_008860.4:p.Val1172=