Canonical Allele Identifier: CA363490121

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937160G>C (hg19) ; chr6:g.31969383G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969383G>C , CM000668.2:g.31969383G>C	GRCh38
NC_000006.11:g.31937160G>C , CM000668.1:g.31937160G>C	GRCh37
NC_000006.10:g.32045139G>C	NCBI36
NG_032652.1:g.15580G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2457G>C	ENSP00000419905.1:n.*2457G>C
ENST00000483553.6:c.*470G>C	ENSP00000420332.2:n.*470G>C
ENST00000485349.6:n.3979G>C
ENST00000491994.2:c.3503G>C	ENSP00000417586.2:p.Gly1168Ala
ENST00000494058.6:n.3805G>C
ENST00000697831.1:c.3434G>C	ENSP00000513453.1:p.Gly1145Ala
ENST00000697832.1:n.3656G>C
ENST00000697833.1:c.*451G>C	ENSP00000513454.1:n.*451G>C
ENST00000697834.1:n.4127G>C
ENST00000697835.1:c.*3021G>C	ENSP00000513455.1:n.*3021G>C
ENST00000697836.1:n.3834G>C
ENST00000697837.1:c.*619G>C	ENSP00000513456.1:n.*619G>C
ENST00000697838.1:c.3368G>C	ENSP00000513457.1:p.Gly1123Ala
ENST00000697839.1:n.4221G>C
ENST00000697840.1:c.3539G>C	ENSP00000513458.1:p.Gly1180Ala
ENST00000697841.1:n.4320G>C
ENST00000697842.1:n.3758G>C
ENST00000375394.7:c.3503G>C MANE Select	ENSP00000364543.2:p.Gly1168Ala
ENST00000375394.6:c.3503G>C	ENSP00000364543.2:p.Gly1168Ala
ENST00000465703.5:n.4139G>C
ENST00000470453.1:n.382+67G>C
ENST00000471818.1:n.432G>C
ENST00000474839.5:c.*2875G>C	ENSP00000420470.1:n.*2875G>C
ENST00000483553.5:c.939G>C
ENST00000485349.5:n.709G>C
ENST00000491994.1:c.498G>C
NM_006929.4:c.3503G>C	NP_008860.4:p.Gly1168Ala
XR_001743586.2:n.3602G>C
XR_926301.3:n.3519G>C
NM_006929.5:c.3503G>C MANE Select	NP_008860.4:p.Gly1168Ala