Canonical Allele Identifier: CA363489789

Gene: SKIC2

Linked Data

• dbSNP Id: rs1487690115
• gnomAD v2: 6-31937111-T-G
• gnomAD v4: 6-31969334-T-G
• MyVariant Identifiers: chr6:g.31937111T>G (hg19) ; chr6:g.31969334T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969334T>G , CM000668.2:g.31969334T>G	GRCh38
NC_000006.11:g.31937111T>G , CM000668.1:g.31937111T>G	GRCh37
NC_000006.10:g.32045090T>G	NCBI36
NG_032652.1:g.15531T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2408T>G	ENSP00000419905.1:n.*2408T>G
ENST00000483553.6:c.*421T>G	ENSP00000420332.2:n.*421T>G
ENST00000485349.6:n.3930T>G
ENST00000491994.2:c.3454T>G	ENSP00000417586.2:p.Cys1152Gly
ENST00000494058.6:n.3756T>G
ENST00000697831.1:c.3385T>G	ENSP00000513453.1:p.Cys1129Gly
ENST00000697832.1:n.3607T>G
ENST00000697833.1:c.*402T>G	ENSP00000513454.1:n.*402T>G
ENST00000697834.1:n.4078T>G
ENST00000697835.1:c.*2972T>G	ENSP00000513455.1:n.*2972T>G
ENST00000697836.1:n.3785T>G
ENST00000697837.1:c.*570T>G	ENSP00000513456.1:n.*570T>G
ENST00000697838.1:c.3319T>G	ENSP00000513457.1:p.Cys1107Gly
ENST00000697839.1:n.4172T>G
ENST00000697840.1:c.3490T>G	ENSP00000513458.1:p.Cys1164Gly
ENST00000697841.1:n.4271T>G
ENST00000697842.1:n.3709T>G
ENST00000375394.7:c.3454T>G MANE Select	ENSP00000364543.2:p.Cys1152Gly
ENST00000375394.6:c.3454T>G	ENSP00000364543.2:p.Cys1152Gly
ENST00000465703.5:n.4090T>G
ENST00000470453.1:n.382+18T>G
ENST00000471818.1:n.383T>G
ENST00000474839.5:c.*2826T>G	ENSP00000420470.1:n.*2826T>G
ENST00000483553.5:c.890T>G
ENST00000485349.5:n.660T>G
ENST00000491994.1:c.449T>G
NM_006929.4:c.3454T>G	NP_008860.4:p.Cys1152Gly
XR_001743586.2:n.3553T>G
XR_926301.3:n.3470T>G
NM_006929.5:c.3454T>G MANE Select	NP_008860.4:p.Cys1152Gly