Canonical Allele Identifier: CA449813809

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937110T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969333T>C , CM000668.2:g.31969333T>C	GRCh38
NC_000006.11:g.31937110T>C , CM000668.1:g.31937110T>C	GRCh37
NC_000006.10:g.32045089T>C	NCBI36
NG_032652.1:g.15530T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2407T>C	ENSP00000419905.1:n.*2407T>C
ENST00000483553.6:c.*420T>C	ENSP00000420332.2:n.*420T>C
ENST00000485349.6:n.3929T>C
ENST00000491994.2:c.3453T>C	ENSP00000417586.2:p.Ala1151=
ENST00000494058.6:n.3755T>C
ENST00000697831.1:c.3384T>C	ENSP00000513453.1:p.Ala1128=
ENST00000697832.1:n.3606T>C
ENST00000697833.1:c.*401T>C	ENSP00000513454.1:n.*401T>C
ENST00000697834.1:n.4077T>C
ENST00000697835.1:c.*2971T>C	ENSP00000513455.1:n.*2971T>C
ENST00000697836.1:n.3784T>C
ENST00000697837.1:c.*569T>C	ENSP00000513456.1:n.*569T>C
ENST00000697838.1:c.3318T>C	ENSP00000513457.1:p.Ala1106=
ENST00000697839.1:n.4171T>C
ENST00000697840.1:c.3489T>C	ENSP00000513458.1:p.Ala1163=
ENST00000697841.1:n.4270T>C
ENST00000697842.1:n.3708T>C
ENST00000375394.7:c.3453T>C MANE Select	ENSP00000364543.2:p.Ala1151=
ENST00000375394.6:c.3453T>C	ENSP00000364543.2:p.Ala1151=
ENST00000465703.5:n.4089T>C
ENST00000470453.1:n.382+17T>C
ENST00000471818.1:n.382T>C
ENST00000474839.5:c.*2825T>C	ENSP00000420470.1:n.*2825T>C
ENST00000483553.5:c.889T>C
ENST00000485349.5:n.659T>C
ENST00000491994.1:c.448T>C
NM_006929.4:c.3453T>C	NP_008860.4:p.Ala1151=
XR_001743586.2:n.3552T>C
XR_926301.3:n.3469T>C
NM_006929.5:c.3453T>C MANE Select	NP_008860.4:p.Ala1151=