Canonical Allele Identifier: CA363491129

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937335T>G (hg19) ; chr6:g.31969558T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969558T>G , CM000668.2:g.31969558T>G	GRCh38
NC_000006.11:g.31937335T>G , CM000668.1:g.31937335T>G	GRCh37
NC_000006.10:g.32045314T>G	NCBI36
NG_032652.1:g.15755T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2632T>G	ENSP00000419905.1:n.*2632T>G
ENST00000485349.6:n.4060T>G
ENST00000491994.2:c.*126T>G	ENSP00000417586.2:n.*126T>G
ENST00000494058.6:n.3886T>G
ENST00000697831.1:c.3515T>G	ENSP00000513453.1:p.Leu1172Arg
ENST00000697832.1:n.3737T>G
ENST00000697833.1:c.*532T>G	ENSP00000513454.1:n.*532T>G
ENST00000697834.1:n.4302T>G
ENST00000697835.1:c.*3102T>G	ENSP00000513455.1:n.*3102T>G
ENST00000697836.1:n.3938T>G
ENST00000697837.1:c.*700T>G	ENSP00000513456.1:n.*700T>G
ENST00000697838.1:c.3449T>G	ENSP00000513457.1:p.Leu1150Arg
ENST00000697839.1:n.4396T>G
ENST00000697840.1:c.3620T>G	ENSP00000513458.1:p.Leu1207Arg
ENST00000697841.1:n.4495T>G
ENST00000697842.1:n.3839T>G
ENST00000375394.7:c.3584T>G MANE Select	ENSP00000364543.2:p.Leu1195Arg
ENST00000375394.6:c.3584T>G	ENSP00000364543.2:p.Leu1195Arg
ENST00000465703.5:n.4314T>G
ENST00000470453.1:n.426T>G
ENST00000471818.1:n.513T>G
ENST00000474839.5:c.*2956T>G	ENSP00000420470.1:n.*2956T>G
ENST00000483553.5:c.1114T>G
ENST00000491994.1:c.673T>G
NM_006929.4:c.3584T>G	NP_008860.4:p.Leu1195Arg
XR_926301.3:n.3600T>G
NM_006929.5:c.3584T>G MANE Select	NP_008860.4:p.Leu1195Arg