Canonical Allele Identifier: CA363491798

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937401T>C (hg19) ; chr6:g.31969624T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969624T>C , CM000668.2:g.31969624T>C	GRCh38
NC_000006.11:g.31937401T>C , CM000668.1:g.31937401T>C	GRCh37
NC_000006.10:g.32045380T>C	NCBI36
NG_032652.1:g.15821T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2698T>C	ENSP00000419905.1:n.*2698T>C
ENST00000485349.6:n.4126T>C
ENST00000491994.2:c.*192T>C	ENSP00000417586.2:n.*192T>C
ENST00000494058.6:n.3952T>C
ENST00000697831.1:c.3581T>C	ENSP00000513453.1:p.Val1194Ala
ENST00000697832.1:n.3803T>C
ENST00000697834.1:n.4368T>C
ENST00000697835.1:c.*3168T>C	ENSP00000513455.1:n.*3168T>C
ENST00000697836.1:n.4004T>C
ENST00000697837.1:c.*766T>C	ENSP00000513456.1:n.*766T>C
ENST00000697838.1:c.3515T>C	ENSP00000513457.1:p.Val1172Ala
ENST00000697839.1:n.4462T>C
ENST00000697840.1:c.3686T>C	ENSP00000513458.1:p.Val1229Ala
ENST00000697841.1:n.4561T>C
ENST00000697842.1:n.3905T>C
ENST00000375394.7:c.3650T>C MANE Select	ENSP00000364543.2:p.Val1217Ala
ENST00000375394.6:c.3650T>C	ENSP00000364543.2:p.Val1217Ala
ENST00000465703.5:n.4380T>C
ENST00000471818.1:n.579T>C
ENST00000474839.5:c.*3022T>C	ENSP00000420470.1:n.*3022T>C
ENST00000483553.5:c.1180T>C
ENST00000491994.1:c.739T>C
NM_006929.4:c.3650T>C	NP_008860.4:p.Val1217Ala
XR_926301.3:n.3666T>C
NM_006929.5:c.3650T>C MANE Select	NP_008860.4:p.Val1217Ala