Canonical Allele Identifier: CA363490934

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937320G>T (hg19) ; chr6:g.31969543G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969543G>T , CM000668.2:g.31969543G>T	GRCh38
NC_000006.11:g.31937320G>T , CM000668.1:g.31937320G>T	GRCh37
NC_000006.10:g.32045299G>T	NCBI36
NG_032652.1:g.15740G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2617G>T	ENSP00000419905.1:n.*2617G>T
ENST00000485349.6:n.4045G>T
ENST00000491994.2:c.*111G>T	ENSP00000417586.2:n.*111G>T
ENST00000494058.6:n.3871G>T
ENST00000697831.1:c.3500G>T	ENSP00000513453.1:p.Gly1167Val
ENST00000697832.1:n.3722G>T
ENST00000697833.1:c.*517G>T	ENSP00000513454.1:n.*517G>T
ENST00000697834.1:n.4287G>T
ENST00000697835.1:c.*3087G>T	ENSP00000513455.1:n.*3087G>T
ENST00000697836.1:n.3923G>T
ENST00000697837.1:c.*685G>T	ENSP00000513456.1:n.*685G>T
ENST00000697838.1:c.3434G>T	ENSP00000513457.1:p.Gly1145Val
ENST00000697839.1:n.4381G>T
ENST00000697840.1:c.3605G>T	ENSP00000513458.1:p.Gly1202Val
ENST00000697841.1:n.4480G>T
ENST00000697842.1:n.3824G>T
ENST00000375394.7:c.3569G>T MANE Select	ENSP00000364543.2:p.Gly1190Val
ENST00000375394.6:c.3569G>T	ENSP00000364543.2:p.Gly1190Val
ENST00000465703.5:n.4299G>T
ENST00000470453.1:n.411G>T
ENST00000471818.1:n.498G>T
ENST00000474839.5:c.*2941G>T	ENSP00000420470.1:n.*2941G>T
ENST00000483553.5:c.1099G>T
ENST00000491994.1:c.658G>T
NM_006929.4:c.3569G>T	NP_008860.4:p.Gly1190Val
XR_926301.3:n.3585G>T
NM_006929.5:c.3569G>T MANE Select	NP_008860.4:p.Gly1190Val