Canonical Allele Identifier: CA3730085

Gene: SKIC2

Linked Data

• dbSNP Id: rs756962606
• ExAC: 6:31937262 C / T
• gnomAD v2: 6-31937262-C-T
• gnomAD v4: 6-31969485-C-T
• MyVariant Identifiers: chr6:g.31937262C>T (hg19) ; chr6:g.31969485C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969485C>T , CM000668.2:g.31969485C>T	GRCh38
NC_000006.11:g.31937262C>T , CM000668.1:g.31937262C>T	GRCh37
NC_000006.10:g.32045241C>T	NCBI36
NG_032652.1:g.15682C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2559C>T	ENSP00000419905.1:n.*2559C>T
ENST00000483553.6:c.*572C>T	ENSP00000420332.2:n.*572C>T
ENST00000485349.6:n.4017-30C>T
ENST00000491994.2:c.*53C>T	ENSP00000417586.2:n.*53C>T
ENST00000494058.6:n.3843-30C>T
ENST00000697831.1:c.3472-30C>T	ENSP00000513453.1:n.3472-30C>T
ENST00000697832.1:n.3694-30C>T
ENST00000697833.1:c.*489-30C>T	ENSP00000513454.1:n.*489-30C>T
ENST00000697834.1:n.4229C>T
ENST00000697835.1:c.*3059-30C>T	ENSP00000513455.1:n.*3059-30C>T
ENST00000697836.1:n.3872-7C>T
ENST00000697837.1:c.*657-30C>T	ENSP00000513456.1:n.*657-30C>T
ENST00000697838.1:c.3406-30C>T	ENSP00000513457.1:n.3406-30C>T
ENST00000697839.1:n.4323C>T
ENST00000697840.1:c.3577-30C>T	ENSP00000513458.1:n.3577-30C>T
ENST00000697841.1:n.4422C>T
ENST00000697842.1:n.3796-30C>T
ENST00000375394.7:c.3541-30C>T MANE Select	ENSP00000364543.2:n.3541-30C>T
ENST00000375394.6:c.3541-30C>T	ENSP00000364543.2:n.3541-30C>T
ENST00000465703.5:n.4241C>T
ENST00000470453.1:n.383-30C>T
ENST00000471818.1:n.470-30C>T
ENST00000474839.5:c.*2913-30C>T	ENSP00000420470.1:n.*2913-30C>T
ENST00000483553.5:c.1041C>T
ENST00000491994.1:c.600C>T
NM_006929.4:c.3541-30C>T	NP_008860.4:n.3541-30C>T
XR_001743586.2:n.3704C>T
XR_926301.3:n.3557-30C>T
NM_006929.5:c.3541-30C>T MANE Select	NP_008860.4:n.3541-30C>T