Canonical Allele Identifier: CA363491688

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937389C>G (hg19) ; chr6:g.31969612C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969612C>G , CM000668.2:g.31969612C>G	GRCh38
NC_000006.11:g.31937389C>G , CM000668.1:g.31937389C>G	GRCh37
NC_000006.10:g.32045368C>G	NCBI36
NG_032652.1:g.15809C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2686C>G	ENSP00000419905.1:n.*2686C>G
ENST00000485349.6:n.4114C>G
ENST00000491994.2:c.*180C>G	ENSP00000417586.2:n.*180C>G
ENST00000494058.6:n.3940C>G
ENST00000697831.1:c.3569C>G	ENSP00000513453.1:p.Ala1190Gly
ENST00000697832.1:n.3791C>G
ENST00000697834.1:n.4356C>G
ENST00000697835.1:c.*3156C>G	ENSP00000513455.1:n.*3156C>G
ENST00000697836.1:n.3992C>G
ENST00000697837.1:c.*754C>G	ENSP00000513456.1:n.*754C>G
ENST00000697838.1:c.3503C>G	ENSP00000513457.1:p.Ala1168Gly
ENST00000697839.1:n.4450C>G
ENST00000697840.1:c.3674C>G	ENSP00000513458.1:p.Ala1225Gly
ENST00000697841.1:n.4549C>G
ENST00000697842.1:n.3893C>G
ENST00000375394.7:c.3638C>G MANE Select	ENSP00000364543.2:p.Ala1213Gly
ENST00000375394.6:c.3638C>G	ENSP00000364543.2:p.Ala1213Gly
ENST00000465703.5:n.4368C>G
ENST00000471818.1:n.567C>G
ENST00000474839.5:c.*3010C>G	ENSP00000420470.1:n.*3010C>G
ENST00000483553.5:c.1168C>G
ENST00000491994.1:c.727C>G
NM_006929.4:c.3638C>G	NP_008860.4:p.Ala1213Gly
XR_926301.3:n.3654C>G
NM_006929.5:c.3638C>G MANE Select	NP_008860.4:p.Ala1213Gly