Canonical Allele Identifier: CA363490463

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937196T>G (hg19) ; chr6:g.31969419T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969419T>G , CM000668.2:g.31969419T>G	GRCh38
NC_000006.11:g.31937196T>G , CM000668.1:g.31937196T>G	GRCh37
NC_000006.10:g.32045175T>G	NCBI36
NG_032652.1:g.15616T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2493T>G	ENSP00000419905.1:n.*2493T>G
ENST00000483553.6:c.*506T>G	ENSP00000420332.2:n.*506T>G
ENST00000485349.6:n.4015T>G
ENST00000491994.2:c.3539T>G	ENSP00000417586.2:p.Met1180Arg
ENST00000494058.6:n.3841T>G
ENST00000697831.1:c.3470T>G	ENSP00000513453.1:p.Met1157Arg
ENST00000697832.1:n.3692T>G
ENST00000697833.1:c.*487T>G	ENSP00000513454.1:n.*487T>G
ENST00000697834.1:n.4163T>G
ENST00000697835.1:c.*3057T>G	ENSP00000513455.1:n.*3057T>G
ENST00000697836.1:n.3870T>G
ENST00000697837.1:c.*655T>G	ENSP00000513456.1:n.*655T>G
ENST00000697838.1:c.3404T>G	ENSP00000513457.1:p.Met1135Arg
ENST00000697839.1:n.4257T>G
ENST00000697840.1:c.3575T>G	ENSP00000513458.1:p.Met1192Arg
ENST00000697841.1:n.4356T>G
ENST00000697842.1:n.3794T>G
ENST00000375394.7:c.3539T>G MANE Select	ENSP00000364543.2:p.Met1180Arg
ENST00000375394.6:c.3539T>G	ENSP00000364543.2:p.Met1180Arg
ENST00000465703.5:n.4175T>G
ENST00000470453.1:n.383-96T>G
ENST00000471818.1:n.468T>G
ENST00000474839.5:c.*2911T>G	ENSP00000420470.1:n.*2911T>G
ENST00000483553.5:c.975T>G
ENST00000491994.1:c.534T>G
NM_006929.4:c.3539T>G	NP_008860.4:p.Met1180Arg
XR_001743586.2:n.3638T>G
XR_926301.3:n.3555T>G
NM_006929.5:c.3539T>G MANE Select	NP_008860.4:p.Met1180Arg