Canonical Allele Identifier: CA363490366

Gene: SKIC2

Linked Data

• gnomAD v4: 6-31969409-G-T
• MyVariant Identifiers: chr6:g.31937186G>T (hg19) ; chr6:g.31969409G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969409G>T , CM000668.2:g.31969409G>T	GRCh38
NC_000006.11:g.31937186G>T , CM000668.1:g.31937186G>T	GRCh37
NC_000006.10:g.32045165G>T	NCBI36
NG_032652.1:g.15606G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2483G>T	ENSP00000419905.1:n.*2483G>T
ENST00000483553.6:c.*496G>T	ENSP00000420332.2:n.*496G>T
ENST00000485349.6:n.4005G>T
ENST00000491994.2:c.3529G>T	ENSP00000417586.2:p.Ala1177Ser
ENST00000494058.6:n.3831G>T
ENST00000697831.1:c.3460G>T	ENSP00000513453.1:p.Ala1154Ser
ENST00000697832.1:n.3682G>T
ENST00000697833.1:c.*477G>T	ENSP00000513454.1:n.*477G>T
ENST00000697834.1:n.4153G>T
ENST00000697835.1:c.*3047G>T	ENSP00000513455.1:n.*3047G>T
ENST00000697836.1:n.3860G>T
ENST00000697837.1:c.*645G>T	ENSP00000513456.1:n.*645G>T
ENST00000697838.1:c.3394G>T	ENSP00000513457.1:p.Ala1132Ser
ENST00000697839.1:n.4247G>T
ENST00000697840.1:c.3565G>T	ENSP00000513458.1:p.Ala1189Ser
ENST00000697841.1:n.4346G>T
ENST00000697842.1:n.3784G>T
ENST00000375394.7:c.3529G>T MANE Select	ENSP00000364543.2:p.Ala1177Ser
ENST00000375394.6:c.3529G>T	ENSP00000364543.2:p.Ala1177Ser
ENST00000465703.5:n.4165G>T
ENST00000470453.1:n.382+93G>T
ENST00000471818.1:n.458G>T
ENST00000474839.5:c.*2901G>T	ENSP00000420470.1:n.*2901G>T
ENST00000483553.5:c.965G>T
ENST00000491994.1:c.524G>T
NM_006929.4:c.3529G>T	NP_008860.4:p.Ala1177Ser
XR_001743586.2:n.3628G>T
XR_926301.3:n.3545G>T
NM_006929.5:c.3529G>T MANE Select	NP_008860.4:p.Ala1177Ser