Canonical Allele Identifier: CA449813935

Gene: SKIC2

Linked Data

• ClinVar Variation Id: 1463481
• ClinVar RCV Id: RCV001961066
• dbSNP Id: rs2151817734
• gnomAD v4: 6-31969417-C-T
• MyVariant Identifiers: chr6:g.31937194C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969417C>T , CM000668.2:g.31969417C>T	GRCh38
NC_000006.11:g.31937194C>T , CM000668.1:g.31937194C>T	GRCh37
NC_000006.10:g.32045173C>T	NCBI36
NG_032652.1:g.15614C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2491C>T	ENSP00000419905.1:n.*2491C>T
ENST00000483553.6:c.*504C>T	ENSP00000420332.2:n.*504C>T
ENST00000485349.6:n.4013C>T
ENST00000491994.2:c.3537C>T	ENSP00000417586.2:p.Gly1179=
ENST00000494058.6:n.3839C>T
ENST00000697831.1:c.3468C>T	ENSP00000513453.1:p.Gly1156=
ENST00000697832.1:n.3690C>T
ENST00000697833.1:c.*485C>T	ENSP00000513454.1:n.*485C>T
ENST00000697834.1:n.4161C>T
ENST00000697835.1:c.*3055C>T	ENSP00000513455.1:n.*3055C>T
ENST00000697836.1:n.3868C>T
ENST00000697837.1:c.*653C>T	ENSP00000513456.1:n.*653C>T
ENST00000697838.1:c.3402C>T	ENSP00000513457.1:p.Gly1134=
ENST00000697839.1:n.4255C>T
ENST00000697840.1:c.3573C>T	ENSP00000513458.1:p.Gly1191=
ENST00000697841.1:n.4354C>T
ENST00000697842.1:n.3792C>T
ENST00000375394.7:c.3537C>T MANE Select	ENSP00000364543.2:p.Gly1179=
ENST00000375394.6:c.3537C>T	ENSP00000364543.2:p.Gly1179=
ENST00000465703.5:n.4173C>T
ENST00000470453.1:n.383-98C>T
ENST00000471818.1:n.466C>T
ENST00000474839.5:c.*2909C>T	ENSP00000420470.1:n.*2909C>T
ENST00000483553.5:c.973C>T
ENST00000491994.1:c.532C>T
NM_006929.4:c.3537C>T	NP_008860.4:p.Gly1179=
XR_001743586.2:n.3636C>T
XR_926301.3:n.3553C>T
NM_006929.5:c.3537C>T MANE Select	NP_008860.4:p.Gly1179=