Canonical Allele Identifier: CA363490302

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937181A>C (hg19) ; chr6:g.31969404A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969404A>C , CM000668.2:g.31969404A>C	GRCh38
NC_000006.11:g.31937181A>C , CM000668.1:g.31937181A>C	GRCh37
NC_000006.10:g.32045160A>C	NCBI36
NG_032652.1:g.15601A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2478A>C	ENSP00000419905.1:n.*2478A>C
ENST00000483553.6:c.*491A>C	ENSP00000420332.2:n.*491A>C
ENST00000485349.6:n.4000A>C
ENST00000491994.2:c.3524A>C	ENSP00000417586.2:p.Glu1175Ala
ENST00000494058.6:n.3826A>C
ENST00000697831.1:c.3455A>C	ENSP00000513453.1:p.Glu1152Ala
ENST00000697832.1:n.3677A>C
ENST00000697833.1:c.*472A>C	ENSP00000513454.1:n.*472A>C
ENST00000697834.1:n.4148A>C
ENST00000697835.1:c.*3042A>C	ENSP00000513455.1:n.*3042A>C
ENST00000697836.1:n.3855A>C
ENST00000697837.1:c.*640A>C	ENSP00000513456.1:n.*640A>C
ENST00000697838.1:c.3389A>C	ENSP00000513457.1:p.Glu1130Ala
ENST00000697839.1:n.4242A>C
ENST00000697840.1:c.3560A>C	ENSP00000513458.1:p.Glu1187Ala
ENST00000697841.1:n.4341A>C
ENST00000697842.1:n.3779A>C
ENST00000375394.7:c.3524A>C MANE Select	ENSP00000364543.2:p.Glu1175Ala
ENST00000375394.6:c.3524A>C	ENSP00000364543.2:p.Glu1175Ala
ENST00000465703.5:n.4160A>C
ENST00000470453.1:n.382+88A>C
ENST00000471818.1:n.453A>C
ENST00000474839.5:c.*2896A>C	ENSP00000420470.1:n.*2896A>C
ENST00000483553.5:c.960A>C
ENST00000485349.5:n.730A>C
ENST00000491994.1:c.519A>C
NM_006929.4:c.3524A>C	NP_008860.4:p.Glu1175Ala
XR_001743586.2:n.3623A>C
XR_926301.3:n.3540A>C
NM_006929.5:c.3524A>C MANE Select	NP_008860.4:p.Glu1175Ala