Canonical Allele Identifier: CA363490611

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937293C>A (hg19) ; chr6:g.31969516C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969516C>A , CM000668.2:g.31969516C>A	GRCh38
NC_000006.11:g.31937293C>A , CM000668.1:g.31937293C>A	GRCh37
NC_000006.10:g.32045272C>A	NCBI36
NG_032652.1:g.15713C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2590C>A	ENSP00000419905.1:n.*2590C>A
ENST00000485349.6:n.4018C>A
ENST00000491994.2:c.*84C>A	ENSP00000417586.2:n.*84C>A
ENST00000494058.6:n.3844C>A
ENST00000697831.1:c.3473C>A	ENSP00000513453.1:p.Pro1158His
ENST00000697832.1:n.3695C>A
ENST00000697833.1:c.*490C>A	ENSP00000513454.1:n.*490C>A
ENST00000697834.1:n.4260C>A
ENST00000697835.1:c.*3060C>A	ENSP00000513455.1:n.*3060C>A
ENST00000697836.1:n.3896C>A
ENST00000697837.1:c.*658C>A	ENSP00000513456.1:n.*658C>A
ENST00000697838.1:c.3407C>A	ENSP00000513457.1:p.Pro1136His
ENST00000697839.1:n.4354C>A
ENST00000697840.1:c.3578C>A	ENSP00000513458.1:p.Pro1193His
ENST00000697841.1:n.4453C>A
ENST00000697842.1:n.3797C>A
ENST00000375394.7:c.3542C>A MANE Select	ENSP00000364543.2:p.Pro1181His
ENST00000375394.6:c.3542C>A	ENSP00000364543.2:p.Pro1181His
ENST00000465703.5:n.4272C>A
ENST00000470453.1:n.384C>A
ENST00000471818.1:n.471C>A
ENST00000474839.5:c.*2914C>A	ENSP00000420470.1:n.*2914C>A
ENST00000483553.5:c.1072C>A
ENST00000491994.1:c.631C>A
NM_006929.4:c.3542C>A	NP_008860.4:p.Pro1181His
XR_926301.3:n.3558C>A
NM_006929.5:c.3542C>A MANE Select	NP_008860.4:p.Pro1181His