Canonical Allele Identifier: CA363491973

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937421G>C (hg19) ; chr6:g.31969644G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969644G>C , CM000668.2:g.31969644G>C	GRCh38
NC_000006.11:g.31937421G>C , CM000668.1:g.31937421G>C	GRCh37
NC_000006.10:g.32045400G>C	NCBI36
NG_032652.1:g.15841G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2718G>C	ENSP00000419905.1:n.*2718G>C
ENST00000485349.6:n.4146G>C
ENST00000491994.2:c.*212G>C	ENSP00000417586.2:n.*212G>C
ENST00000494058.6:n.3972G>C
ENST00000697831.1:c.3601G>C	ENSP00000513453.1:p.Ala1201Pro
ENST00000697832.1:n.3823G>C
ENST00000697834.1:n.4388G>C
ENST00000697835.1:c.*3188G>C	ENSP00000513455.1:n.*3188G>C
ENST00000697836.1:n.4024G>C
ENST00000697837.1:c.*786G>C	ENSP00000513456.1:n.*786G>C
ENST00000697838.1:c.3535G>C	ENSP00000513457.1:p.Ala1179Pro
ENST00000697839.1:n.4482G>C
ENST00000697840.1:c.3706G>C	ENSP00000513458.1:p.Ala1236Pro
ENST00000697841.1:n.4581G>C
ENST00000697842.1:n.3925G>C
ENST00000375394.7:c.3670G>C MANE Select	ENSP00000364543.2:p.Ala1224Pro
ENST00000375394.6:c.3670G>C	ENSP00000364543.2:p.Ala1224Pro
ENST00000465703.5:n.4400G>C
ENST00000471818.1:n.599G>C
ENST00000474839.5:c.*3042G>C	ENSP00000420470.1:n.*3042G>C
ENST00000483553.5:c.1200G>C
ENST00000491994.1:c.759G>C
NM_006929.4:c.3670G>C	NP_008860.4:p.Ala1224Pro
XR_926301.3:n.3686G>C
NM_006929.5:c.3670G>C MANE Select	NP_008860.4:p.Ala1224Pro