Canonical Allele Identifier: CA363491559

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937376T>C (hg19) ; chr6:g.31969599T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969599T>C , CM000668.2:g.31969599T>C	GRCh38
NC_000006.11:g.31937376T>C , CM000668.1:g.31937376T>C	GRCh37
NC_000006.10:g.32045355T>C	NCBI36
NG_032652.1:g.15796T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2673T>C	ENSP00000419905.1:n.*2673T>C
ENST00000485349.6:n.4101T>C
ENST00000491994.2:c.*167T>C	ENSP00000417586.2:n.*167T>C
ENST00000494058.6:n.3927T>C
ENST00000697831.1:c.3556T>C	ENSP00000513453.1:p.Ser1186Pro
ENST00000697832.1:n.3778T>C
ENST00000697834.1:n.4343T>C
ENST00000697835.1:c.*3143T>C	ENSP00000513455.1:n.*3143T>C
ENST00000697836.1:n.3979T>C
ENST00000697837.1:c.*741T>C	ENSP00000513456.1:n.*741T>C
ENST00000697838.1:c.3490T>C	ENSP00000513457.1:p.Ser1164Pro
ENST00000697839.1:n.4437T>C
ENST00000697840.1:c.3661T>C	ENSP00000513458.1:p.Ser1221Pro
ENST00000697841.1:n.4536T>C
ENST00000697842.1:n.3880T>C
ENST00000375394.7:c.3625T>C MANE Select	ENSP00000364543.2:p.Ser1209Pro
ENST00000375394.6:c.3625T>C	ENSP00000364543.2:p.Ser1209Pro
ENST00000465703.5:n.4355T>C
ENST00000471818.1:n.554T>C
ENST00000474839.5:c.*2997T>C	ENSP00000420470.1:n.*2997T>C
ENST00000483553.5:c.1155T>C
ENST00000491994.1:c.714T>C
NM_006929.4:c.3625T>C	NP_008860.4:p.Ser1209Pro
XR_926301.3:n.3641T>C
NM_006929.5:c.3625T>C MANE Select	NP_008860.4:p.Ser1209Pro