Canonical Allele Identifier: CA363491435

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937368T>A (hg19) ; chr6:g.31969591T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969591T>A , CM000668.2:g.31969591T>A	GRCh38
NC_000006.11:g.31937368T>A , CM000668.1:g.31937368T>A	GRCh37
NC_000006.10:g.32045347T>A	NCBI36
NG_032652.1:g.15788T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2665T>A	ENSP00000419905.1:n.*2665T>A
ENST00000485349.6:n.4093T>A
ENST00000491994.2:c.*159T>A	ENSP00000417586.2:n.*159T>A
ENST00000494058.6:n.3919T>A
ENST00000697831.1:c.3548T>A	ENSP00000513453.1:p.Met1183Lys
ENST00000697832.1:n.3770T>A
ENST00000697833.1:c.*565T>A	ENSP00000513454.1:n.*565T>A
ENST00000697834.1:n.4335T>A
ENST00000697835.1:c.*3135T>A	ENSP00000513455.1:n.*3135T>A
ENST00000697836.1:n.3971T>A
ENST00000697837.1:c.*733T>A	ENSP00000513456.1:n.*733T>A
ENST00000697838.1:c.3482T>A	ENSP00000513457.1:p.Met1161Lys
ENST00000697839.1:n.4429T>A
ENST00000697840.1:c.3653T>A	ENSP00000513458.1:p.Met1218Lys
ENST00000697841.1:n.4528T>A
ENST00000697842.1:n.3872T>A
ENST00000375394.7:c.3617T>A MANE Select	ENSP00000364543.2:p.Met1206Lys
ENST00000375394.6:c.3617T>A	ENSP00000364543.2:p.Met1206Lys
ENST00000465703.5:n.4347T>A
ENST00000471818.1:n.546T>A
ENST00000474839.5:c.*2989T>A	ENSP00000420470.1:n.*2989T>A
ENST00000483553.5:c.1147T>A
ENST00000491994.1:c.706T>A
NM_006929.4:c.3617T>A	NP_008860.4:p.Met1206Lys
XR_926301.3:n.3633T>A
NM_006929.5:c.3617T>A MANE Select	NP_008860.4:p.Met1206Lys