Canonical Allele Identifier: CA449814038

Gene: SKIC2

Linked Data

• gnomAD v4: 6-31969517-C-G
• MyVariant Identifiers: chr6:g.31937294C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969517C>G , CM000668.2:g.31969517C>G	GRCh38
NC_000006.11:g.31937294C>G , CM000668.1:g.31937294C>G	GRCh37
NC_000006.10:g.32045273C>G	NCBI36
NG_032652.1:g.15714C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2591C>G	ENSP00000419905.1:n.*2591C>G
ENST00000485349.6:n.4019C>G
ENST00000491994.2:c.*85C>G	ENSP00000417586.2:n.*85C>G
ENST00000494058.6:n.3845C>G
ENST00000697831.1:c.3474C>G	ENSP00000513453.1:p.Pro1158=
ENST00000697832.1:n.3696C>G
ENST00000697833.1:c.*491C>G	ENSP00000513454.1:n.*491C>G
ENST00000697834.1:n.4261C>G
ENST00000697835.1:c.*3061C>G	ENSP00000513455.1:n.*3061C>G
ENST00000697836.1:n.3897C>G
ENST00000697837.1:c.*659C>G	ENSP00000513456.1:n.*659C>G
ENST00000697838.1:c.3408C>G	ENSP00000513457.1:p.Pro1136=
ENST00000697839.1:n.4355C>G
ENST00000697840.1:c.3579C>G	ENSP00000513458.1:p.Pro1193=
ENST00000697841.1:n.4454C>G
ENST00000697842.1:n.3798C>G
ENST00000375394.7:c.3543C>G MANE Select	ENSP00000364543.2:p.Pro1181=
ENST00000375394.6:c.3543C>G	ENSP00000364543.2:p.Pro1181=
ENST00000465703.5:n.4273C>G
ENST00000470453.1:n.385C>G
ENST00000471818.1:n.472C>G
ENST00000474839.5:c.*2915C>G	ENSP00000420470.1:n.*2915C>G
ENST00000483553.5:c.1073C>G
ENST00000491994.1:c.632C>G
NM_006929.4:c.3543C>G	NP_008860.4:p.Pro1181=
XR_926301.3:n.3559C>G
NM_006929.5:c.3543C>G MANE Select	NP_008860.4:p.Pro1181=