Canonical Allele Identifier: CA449813914

Gene: SKIC2

Linked Data

• ClinVar Variation Id: 2841166
• ClinVar RCV Id: RCV003718873
• dbSNP Id: rs2151817688
• gnomAD v4: 6-31969399-A-G
• MyVariant Identifiers: chr6:g.31937176A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969399A>G , CM000668.2:g.31969399A>G	GRCh38
NC_000006.11:g.31937176A>G , CM000668.1:g.31937176A>G	GRCh37
NC_000006.10:g.32045155A>G	NCBI36
NG_032652.1:g.15596A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2473A>G	ENSP00000419905.1:n.*2473A>G
ENST00000483553.6:c.*486A>G	ENSP00000420332.2:n.*486A>G
ENST00000485349.6:n.3995A>G
ENST00000491994.2:c.3519A>G	ENSP00000417586.2:p.Val1173=
ENST00000494058.6:n.3821A>G
ENST00000697831.1:c.3450A>G	ENSP00000513453.1:p.Val1150=
ENST00000697832.1:n.3672A>G
ENST00000697833.1:c.*467A>G	ENSP00000513454.1:n.*467A>G
ENST00000697834.1:n.4143A>G
ENST00000697835.1:c.*3037A>G	ENSP00000513455.1:n.*3037A>G
ENST00000697836.1:n.3850A>G
ENST00000697837.1:c.*635A>G	ENSP00000513456.1:n.*635A>G
ENST00000697838.1:c.3384A>G	ENSP00000513457.1:p.Val1128=
ENST00000697839.1:n.4237A>G
ENST00000697840.1:c.3555A>G	ENSP00000513458.1:p.Val1185=
ENST00000697841.1:n.4336A>G
ENST00000697842.1:n.3774A>G
ENST00000375394.7:c.3519A>G MANE Select	ENSP00000364543.2:p.Val1173=
ENST00000375394.6:c.3519A>G	ENSP00000364543.2:p.Val1173=
ENST00000465703.5:n.4155A>G
ENST00000470453.1:n.382+83A>G
ENST00000471818.1:n.448A>G
ENST00000474839.5:c.*2891A>G	ENSP00000420470.1:n.*2891A>G
ENST00000483553.5:c.955A>G
ENST00000485349.5:n.725A>G
ENST00000491994.1:c.514A>G
NM_006929.4:c.3519A>G	NP_008860.4:p.Val1173=
XR_001743586.2:n.3618A>G
XR_926301.3:n.3535A>G
NM_006929.5:c.3519A>G MANE Select	NP_008860.4:p.Val1173=