Canonical Allele Identifier: CA566693092

Gene: SKIC2

Linked Data

• dbSNP Id: rs751297738
• gnomAD v2: 6-31937257-G-A
• gnomAD v4: 6-31969480-G-A
• MyVariant Identifiers: chr6:g.31937257G>A (hg19) ; chr6:g.31969480G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969480G>A , CM000668.2:g.31969480G>A	GRCh38
NC_000006.11:g.31937257G>A , CM000668.1:g.31937257G>A	GRCh37
NC_000006.10:g.32045236G>A	NCBI36
NG_032652.1:g.15677G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2554G>A	ENSP00000419905.1:n.*2554G>A
ENST00000483553.6:c.*567G>A	ENSP00000420332.2:n.*567G>A
ENST00000485349.6:n.4017-35G>A
ENST00000491994.2:c.*48G>A	ENSP00000417586.2:n.*48G>A
ENST00000494058.6:n.3843-35G>A
ENST00000697831.1:c.3472-35G>A	ENSP00000513453.1:n.3472-35G>A
ENST00000697832.1:n.3694-35G>A
ENST00000697833.1:c.*489-35G>A	ENSP00000513454.1:n.*489-35G>A
ENST00000697834.1:n.4224G>A
ENST00000697835.1:c.*3059-35G>A	ENSP00000513455.1:n.*3059-35G>A
ENST00000697836.1:n.3872-12G>A
ENST00000697837.1:c.*657-35G>A	ENSP00000513456.1:n.*657-35G>A
ENST00000697838.1:c.3406-35G>A	ENSP00000513457.1:n.3406-35G>A
ENST00000697839.1:n.4318G>A
ENST00000697840.1:c.3577-35G>A	ENSP00000513458.1:n.3577-35G>A
ENST00000697841.1:n.4417G>A
ENST00000697842.1:n.3796-35G>A
ENST00000375394.7:c.3541-35G>A MANE Select	ENSP00000364543.2:n.3541-35G>A
ENST00000375394.6:c.3541-35G>A	ENSP00000364543.2:n.3541-35G>A
ENST00000465703.5:n.4236G>A
ENST00000470453.1:n.383-35G>A
ENST00000471818.1:n.470-35G>A
ENST00000474839.5:c.*2913-35G>A	ENSP00000420470.1:n.*2913-35G>A
ENST00000483553.5:c.1036G>A
ENST00000491994.1:c.595G>A
NM_006929.4:c.3541-35G>A	NP_008860.4:n.3541-35G>A
XR_001743586.2:n.3699G>A
XR_926301.3:n.3557-35G>A
NM_006929.5:c.3541-35G>A MANE Select	NP_008860.4:n.3541-35G>A