Canonical Allele Identifier: CA449813918

Gene: SKIC2

Linked Data

• dbSNP Id: rs1773032651
• gnomAD v4: 6-31969411-C-A
• MyVariant Identifiers: chr6:g.31937188C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969411C>A , CM000668.2:g.31969411C>A	GRCh38
NC_000006.11:g.31937188C>A , CM000668.1:g.31937188C>A	GRCh37
NC_000006.10:g.32045167C>A	NCBI36
NG_032652.1:g.15608C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2485C>A	ENSP00000419905.1:n.*2485C>A
ENST00000483553.6:c.*498C>A	ENSP00000420332.2:n.*498C>A
ENST00000485349.6:n.4007C>A
ENST00000491994.2:c.3531C>A	ENSP00000417586.2:p.Ala1177=
ENST00000494058.6:n.3833C>A
ENST00000697831.1:c.3462C>A	ENSP00000513453.1:p.Ala1154=
ENST00000697832.1:n.3684C>A
ENST00000697833.1:c.*479C>A	ENSP00000513454.1:n.*479C>A
ENST00000697834.1:n.4155C>A
ENST00000697835.1:c.*3049C>A	ENSP00000513455.1:n.*3049C>A
ENST00000697836.1:n.3862C>A
ENST00000697837.1:c.*647C>A	ENSP00000513456.1:n.*647C>A
ENST00000697838.1:c.3396C>A	ENSP00000513457.1:p.Ala1132=
ENST00000697839.1:n.4249C>A
ENST00000697840.1:c.3567C>A	ENSP00000513458.1:p.Ala1189=
ENST00000697841.1:n.4348C>A
ENST00000697842.1:n.3786C>A
ENST00000375394.7:c.3531C>A MANE Select	ENSP00000364543.2:p.Ala1177=
ENST00000375394.6:c.3531C>A	ENSP00000364543.2:p.Ala1177=
ENST00000465703.5:n.4167C>A
ENST00000470453.1:n.382+95C>A
ENST00000471818.1:n.460C>A
ENST00000474839.5:c.*2903C>A	ENSP00000420470.1:n.*2903C>A
ENST00000483553.5:c.967C>A
ENST00000491994.1:c.526C>A
NM_006929.4:c.3531C>A	NP_008860.4:p.Ala1177=
XR_001743586.2:n.3630C>A
XR_926301.3:n.3547C>A
NM_006929.5:c.3531C>A MANE Select	NP_008860.4:p.Ala1177=