Canonical Allele Identifier: CA363492373

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937458A>C (hg19) ; chr6:g.31969681A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969681A>C , CM000668.2:g.31969681A>C	GRCh38
NC_000006.11:g.31937458A>C , CM000668.1:g.31937458A>C	GRCh37
NC_000006.10:g.32045437A>C	NCBI36
NG_032652.1:g.15878A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2755A>C	ENSP00000419905.1:n.*2755A>C
ENST00000485349.6:n.4183A>C
ENST00000491994.2:c.*249A>C	ENSP00000417586.2:n.*249A>C
ENST00000494058.6:n.4009A>C
ENST00000697831.1:c.3638A>C	ENSP00000513453.1:p.Asp1213Ala
ENST00000697832.1:n.3860A>C
ENST00000697834.1:n.4425A>C
ENST00000697835.1:c.*3225A>C	ENSP00000513455.1:n.*3225A>C
ENST00000697836.1:n.4061A>C
ENST00000697837.1:c.*823A>C	ENSP00000513456.1:n.*823A>C
ENST00000697838.1:c.3572A>C	ENSP00000513457.1:p.Asp1191Ala
ENST00000697839.1:n.4519A>C
ENST00000697840.1:c.3743A>C	ENSP00000513458.1:p.Asp1248Ala
ENST00000697841.1:n.4618A>C
ENST00000697842.1:n.3962A>C
ENST00000375394.7:c.3707A>C MANE Select	ENSP00000364543.2:p.Asp1236Ala
ENST00000375394.6:c.3707A>C	ENSP00000364543.2:p.Asp1236Ala
ENST00000465703.5:n.4437A>C
ENST00000471818.1:n.636A>C
ENST00000474839.5:c.*3079A>C	ENSP00000420470.1:n.*3079A>C
ENST00000483553.5:c.1237A>C
ENST00000491994.1:c.796A>C
NM_006929.4:c.3707A>C	NP_008860.4:p.Asp1236Ala
XR_926301.3:n.3723A>C
NM_006929.5:c.3707A>C MANE Select	NP_008860.4:p.Asp1236Ala