Canonical Allele Identifier: CA363490818

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937313C>G (hg19) ; chr6:g.31969536C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969536C>G , CM000668.2:g.31969536C>G	GRCh38
NC_000006.11:g.31937313C>G , CM000668.1:g.31937313C>G	GRCh37
NC_000006.10:g.32045292C>G	NCBI36
NG_032652.1:g.15733C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2610C>G	ENSP00000419905.1:n.*2610C>G
ENST00000485349.6:n.4038C>G
ENST00000491994.2:c.*104C>G	ENSP00000417586.2:n.*104C>G
ENST00000494058.6:n.3864C>G
ENST00000697831.1:c.3493C>G	ENSP00000513453.1:p.Leu1165Val
ENST00000697832.1:n.3715C>G
ENST00000697833.1:c.*510C>G	ENSP00000513454.1:n.*510C>G
ENST00000697834.1:n.4280C>G
ENST00000697835.1:c.*3080C>G	ENSP00000513455.1:n.*3080C>G
ENST00000697836.1:n.3916C>G
ENST00000697837.1:c.*678C>G	ENSP00000513456.1:n.*678C>G
ENST00000697838.1:c.3427C>G	ENSP00000513457.1:p.Leu1143Val
ENST00000697839.1:n.4374C>G
ENST00000697840.1:c.3598C>G	ENSP00000513458.1:p.Leu1200Val
ENST00000697841.1:n.4473C>G
ENST00000697842.1:n.3817C>G
ENST00000375394.7:c.3562C>G MANE Select	ENSP00000364543.2:p.Leu1188Val
ENST00000375394.6:c.3562C>G	ENSP00000364543.2:p.Leu1188Val
ENST00000465703.5:n.4292C>G
ENST00000470453.1:n.404C>G
ENST00000471818.1:n.491C>G
ENST00000474839.5:c.*2934C>G	ENSP00000420470.1:n.*2934C>G
ENST00000483553.5:c.1092C>G
ENST00000491994.1:c.651C>G
NM_006929.4:c.3562C>G	NP_008860.4:p.Leu1188Val
XR_926301.3:n.3578C>G
NM_006929.5:c.3562C>G MANE Select	NP_008860.4:p.Leu1188Val