Canonical Allele Identifier: CA363491582

Gene: SKIC2

Linked Data

• gnomAD v4: 6-31969600-C-G
• MyVariant Identifiers: chr6:g.31937377C>G (hg19) ; chr6:g.31969600C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969600C>G , CM000668.2:g.31969600C>G	GRCh38
NC_000006.11:g.31937377C>G , CM000668.1:g.31937377C>G	GRCh37
NC_000006.10:g.32045356C>G	NCBI36
NG_032652.1:g.15797C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2674C>G	ENSP00000419905.1:n.*2674C>G
ENST00000485349.6:n.4102C>G
ENST00000491994.2:c.*168C>G	ENSP00000417586.2:n.*168C>G
ENST00000494058.6:n.3928C>G
ENST00000697831.1:c.3557C>G	ENSP00000513453.1:p.Ser1186Ter
ENST00000697832.1:n.3779C>G
ENST00000697834.1:n.4344C>G
ENST00000697835.1:c.*3144C>G	ENSP00000513455.1:n.*3144C>G
ENST00000697836.1:n.3980C>G
ENST00000697837.1:c.*742C>G	ENSP00000513456.1:n.*742C>G
ENST00000697838.1:c.3491C>G	ENSP00000513457.1:p.Ser1164Ter
ENST00000697839.1:n.4438C>G
ENST00000697840.1:c.3662C>G	ENSP00000513458.1:p.Ser1221Ter
ENST00000697841.1:n.4537C>G
ENST00000697842.1:n.3881C>G
ENST00000375394.7:c.3626C>G MANE Select	ENSP00000364543.2:p.Ser1209Ter
ENST00000375394.6:c.3626C>G	ENSP00000364543.2:p.Ser1209Ter
ENST00000465703.5:n.4356C>G
ENST00000471818.1:n.555C>G
ENST00000474839.5:c.*2998C>G	ENSP00000420470.1:n.*2998C>G
ENST00000483553.5:c.1156C>G
ENST00000491994.1:c.715C>G
NM_006929.4:c.3626C>G	NP_008860.4:p.Ser1209Ter
XR_926301.3:n.3642C>G
NM_006929.5:c.3626C>G MANE Select	NP_008860.4:p.Ser1209Ter