Canonical Allele Identifier: CA449813888

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937158T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969381T>C , CM000668.2:g.31969381T>C	GRCh38
NC_000006.11:g.31937158T>C , CM000668.1:g.31937158T>C	GRCh37
NC_000006.10:g.32045137T>C	NCBI36
NG_032652.1:g.15578T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2455T>C	ENSP00000419905.1:n.*2455T>C
ENST00000483553.6:c.*468T>C	ENSP00000420332.2:n.*468T>C
ENST00000485349.6:n.3977T>C
ENST00000491994.2:c.3501T>C	ENSP00000417586.2:p.Phe1167=
ENST00000494058.6:n.3803T>C
ENST00000697831.1:c.3432T>C	ENSP00000513453.1:p.Phe1144=
ENST00000697832.1:n.3654T>C
ENST00000697833.1:c.*449T>C	ENSP00000513454.1:n.*449T>C
ENST00000697834.1:n.4125T>C
ENST00000697835.1:c.*3019T>C	ENSP00000513455.1:n.*3019T>C
ENST00000697836.1:n.3832T>C
ENST00000697837.1:c.*617T>C	ENSP00000513456.1:n.*617T>C
ENST00000697838.1:c.3366T>C	ENSP00000513457.1:p.Phe1122=
ENST00000697839.1:n.4219T>C
ENST00000697840.1:c.3537T>C	ENSP00000513458.1:p.Phe1179=
ENST00000697841.1:n.4318T>C
ENST00000697842.1:n.3756T>C
ENST00000375394.7:c.3501T>C MANE Select	ENSP00000364543.2:p.Phe1167=
ENST00000375394.6:c.3501T>C	ENSP00000364543.2:p.Phe1167=
ENST00000465703.5:n.4137T>C
ENST00000470453.1:n.382+65T>C
ENST00000471818.1:n.430T>C
ENST00000474839.5:c.*2873T>C	ENSP00000420470.1:n.*2873T>C
ENST00000483553.5:c.937T>C
ENST00000485349.5:n.707T>C
ENST00000491994.1:c.496T>C
NM_006929.4:c.3501T>C	NP_008860.4:p.Phe1167=
XR_001743586.2:n.3600T>C
XR_926301.3:n.3517T>C
NM_006929.5:c.3501T>C MANE Select	NP_008860.4:p.Phe1167=