Canonical Allele Identifier: CA449814145

Gene: SKIC2

Linked Data

• gnomAD v4: 6-31969601-A-G
• MyVariant Identifiers: chr6:g.31937378A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969601A>G , CM000668.2:g.31969601A>G	GRCh38
NC_000006.11:g.31937378A>G , CM000668.1:g.31937378A>G	GRCh37
NC_000006.10:g.32045357A>G	NCBI36
NG_032652.1:g.15798A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2675A>G	ENSP00000419905.1:n.*2675A>G
ENST00000485349.6:n.4103A>G
ENST00000491994.2:c.*169A>G	ENSP00000417586.2:n.*169A>G
ENST00000494058.6:n.3929A>G
ENST00000697831.1:c.3558A>G	ENSP00000513453.1:p.Ser1186=
ENST00000697832.1:n.3780A>G
ENST00000697834.1:n.4345A>G
ENST00000697835.1:c.*3145A>G	ENSP00000513455.1:n.*3145A>G
ENST00000697836.1:n.3981A>G
ENST00000697837.1:c.*743A>G	ENSP00000513456.1:n.*743A>G
ENST00000697838.1:c.3492A>G	ENSP00000513457.1:p.Ser1164=
ENST00000697839.1:n.4439A>G
ENST00000697840.1:c.3663A>G	ENSP00000513458.1:p.Ser1221=
ENST00000697841.1:n.4538A>G
ENST00000697842.1:n.3882A>G
ENST00000375394.7:c.3627A>G MANE Select	ENSP00000364543.2:p.Ser1209=
ENST00000375394.6:c.3627A>G	ENSP00000364543.2:p.Ser1209=
ENST00000465703.5:n.4357A>G
ENST00000471818.1:n.556A>G
ENST00000474839.5:c.*2999A>G	ENSP00000420470.1:n.*2999A>G
ENST00000483553.5:c.1157A>G
ENST00000491994.1:c.716A>G
NM_006929.4:c.3627A>G	NP_008860.4:p.Ser1209=
XR_926301.3:n.3643A>G
NM_006929.5:c.3627A>G MANE Select	NP_008860.4:p.Ser1209=