Canonical Allele Identifier: CA3730083

Gene: SKIC2

Linked Data

• dbSNP Id: rs777553799
• ExAC: 6:31937255 C / T
• gnomAD v2: 6-31937255-C-T
• MyVariant Identifiers: chr6:g.31937255C>T (hg19) ; chr6:g.31969478C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969478C>T , CM000668.2:g.31969478C>T	GRCh38
NC_000006.11:g.31937255C>T , CM000668.1:g.31937255C>T	GRCh37
NC_000006.10:g.32045234C>T	NCBI36
NG_032652.1:g.15675C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2552C>T	ENSP00000419905.1:n.*2552C>T
ENST00000483553.6:c.*565C>T	ENSP00000420332.2:n.*565C>T
ENST00000485349.6:n.4017-37C>T
ENST00000491994.2:c.*46C>T	ENSP00000417586.2:n.*46C>T
ENST00000494058.6:n.3843-37C>T
ENST00000697831.1:c.3472-37C>T	ENSP00000513453.1:n.3472-37C>T
ENST00000697832.1:n.3694-37C>T
ENST00000697833.1:c.*489-37C>T	ENSP00000513454.1:n.*489-37C>T
ENST00000697834.1:n.4222C>T
ENST00000697835.1:c.*3059-37C>T	ENSP00000513455.1:n.*3059-37C>T
ENST00000697836.1:n.3872-14C>T
ENST00000697837.1:c.*657-37C>T	ENSP00000513456.1:n.*657-37C>T
ENST00000697838.1:c.3406-37C>T	ENSP00000513457.1:n.3406-37C>T
ENST00000697839.1:n.4316C>T
ENST00000697840.1:c.3577-37C>T	ENSP00000513458.1:n.3577-37C>T
ENST00000697841.1:n.4415C>T
ENST00000697842.1:n.3796-37C>T
ENST00000375394.7:c.3541-37C>T MANE Select	ENSP00000364543.2:n.3541-37C>T
ENST00000375394.6:c.3541-37C>T	ENSP00000364543.2:n.3541-37C>T
ENST00000465703.5:n.4234C>T
ENST00000470453.1:n.383-37C>T
ENST00000471818.1:n.470-37C>T
ENST00000474839.5:c.*2913-37C>T	ENSP00000420470.1:n.*2913-37C>T
ENST00000483553.5:c.1034C>T
ENST00000491994.1:c.593C>T
NM_006929.4:c.3541-37C>T	NP_008860.4:n.3541-37C>T
XR_001743586.2:n.3697C>T
XR_926301.3:n.3557-37C>T
NM_006929.5:c.3541-37C>T MANE Select	NP_008860.4:n.3541-37C>T