Canonical Allele Identifier: CA363489864

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937126A>G (hg19) ; chr6:g.31969349A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969349A>G , CM000668.2:g.31969349A>G	GRCh38
NC_000006.11:g.31937126A>G , CM000668.1:g.31937126A>G	GRCh37
NC_000006.10:g.32045105A>G	NCBI36
NG_032652.1:g.15546A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2423A>G	ENSP00000419905.1:n.*2423A>G
ENST00000483553.6:c.*436A>G	ENSP00000420332.2:n.*436A>G
ENST00000485349.6:n.3945A>G
ENST00000491994.2:c.3469A>G	ENSP00000417586.2:p.Thr1157Ala
ENST00000494058.6:n.3771A>G
ENST00000697831.1:c.3400A>G	ENSP00000513453.1:p.Thr1134Ala
ENST00000697832.1:n.3622A>G
ENST00000697833.1:c.*417A>G	ENSP00000513454.1:n.*417A>G
ENST00000697834.1:n.4093A>G
ENST00000697835.1:c.*2987A>G	ENSP00000513455.1:n.*2987A>G
ENST00000697836.1:n.3800A>G
ENST00000697837.1:c.*585A>G	ENSP00000513456.1:n.*585A>G
ENST00000697838.1:c.3334A>G	ENSP00000513457.1:p.Thr1112Ala
ENST00000697839.1:n.4187A>G
ENST00000697840.1:c.3505A>G	ENSP00000513458.1:p.Thr1169Ala
ENST00000697841.1:n.4286A>G
ENST00000697842.1:n.3724A>G
ENST00000375394.7:c.3469A>G MANE Select	ENSP00000364543.2:p.Thr1157Ala
ENST00000375394.6:c.3469A>G	ENSP00000364543.2:p.Thr1157Ala
ENST00000465703.5:n.4105A>G
ENST00000470453.1:n.382+33A>G
ENST00000471818.1:n.398A>G
ENST00000474839.5:c.*2841A>G	ENSP00000420470.1:n.*2841A>G
ENST00000483553.5:c.905A>G
ENST00000485349.5:n.675A>G
ENST00000491994.1:c.464A>G
NM_006929.4:c.3469A>G	NP_008860.4:p.Thr1157Ala
XR_001743586.2:n.3568A>G
XR_926301.3:n.3485A>G
NM_006929.5:c.3469A>G MANE Select	NP_008860.4:p.Thr1157Ala