Canonical Allele Identifier: CA363490376

Gene: SKIC2

Linked Data

• dbSNP Id: rs1213979152
• gnomAD v2: 6-31937187-C-G
• gnomAD v3: 6-31969410-C-G
• gnomAD v4: 6-31969410-C-G
• MyVariant Identifiers: chr6:g.31937187C>G (hg19) ; chr6:g.31969410C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969410C>G , CM000668.2:g.31969410C>G	GRCh38
NC_000006.11:g.31937187C>G , CM000668.1:g.31937187C>G	GRCh37
NC_000006.10:g.32045166C>G	NCBI36
NG_032652.1:g.15607C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2484C>G	ENSP00000419905.1:n.*2484C>G
ENST00000483553.6:c.*497C>G	ENSP00000420332.2:n.*497C>G
ENST00000485349.6:n.4006C>G
ENST00000491994.2:c.3530C>G	ENSP00000417586.2:p.Ala1177Gly
ENST00000494058.6:n.3832C>G
ENST00000697831.1:c.3461C>G	ENSP00000513453.1:p.Ala1154Gly
ENST00000697832.1:n.3683C>G
ENST00000697833.1:c.*478C>G	ENSP00000513454.1:n.*478C>G
ENST00000697834.1:n.4154C>G
ENST00000697835.1:c.*3048C>G	ENSP00000513455.1:n.*3048C>G
ENST00000697836.1:n.3861C>G
ENST00000697837.1:c.*646C>G	ENSP00000513456.1:n.*646C>G
ENST00000697838.1:c.3395C>G	ENSP00000513457.1:p.Ala1132Gly
ENST00000697839.1:n.4248C>G
ENST00000697840.1:c.3566C>G	ENSP00000513458.1:p.Ala1189Gly
ENST00000697841.1:n.4347C>G
ENST00000697842.1:n.3785C>G
ENST00000375394.7:c.3530C>G MANE Select	ENSP00000364543.2:p.Ala1177Gly
ENST00000375394.6:c.3530C>G	ENSP00000364543.2:p.Ala1177Gly
ENST00000465703.5:n.4166C>G
ENST00000470453.1:n.382+94C>G
ENST00000471818.1:n.459C>G
ENST00000474839.5:c.*2902C>G	ENSP00000420470.1:n.*2902C>G
ENST00000483553.5:c.966C>G
ENST00000491994.1:c.525C>G
NM_006929.4:c.3530C>G	NP_008860.4:p.Ala1177Gly
XR_001743586.2:n.3629C>G
XR_926301.3:n.3546C>G
NM_006929.5:c.3530C>G MANE Select	NP_008860.4:p.Ala1177Gly