Canonical Allele Identifier: CA363492092

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937428T>C (hg19) ; chr6:g.31969651T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969651T>C , CM000668.2:g.31969651T>C	GRCh38
NC_000006.11:g.31937428T>C , CM000668.1:g.31937428T>C	GRCh37
NC_000006.10:g.32045407T>C	NCBI36
NG_032652.1:g.15848T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2725T>C	ENSP00000419905.1:n.*2725T>C
ENST00000485349.6:n.4153T>C
ENST00000491994.2:c.*219T>C	ENSP00000417586.2:n.*219T>C
ENST00000494058.6:n.3979T>C
ENST00000697831.1:c.3608T>C	ENSP00000513453.1:p.Met1203Thr
ENST00000697832.1:n.3830T>C
ENST00000697834.1:n.4395T>C
ENST00000697835.1:c.*3195T>C	ENSP00000513455.1:n.*3195T>C
ENST00000697836.1:n.4031T>C
ENST00000697837.1:c.*793T>C	ENSP00000513456.1:n.*793T>C
ENST00000697838.1:c.3542T>C	ENSP00000513457.1:p.Met1181Thr
ENST00000697839.1:n.4489T>C
ENST00000697840.1:c.3713T>C	ENSP00000513458.1:p.Met1238Thr
ENST00000697841.1:n.4588T>C
ENST00000697842.1:n.3932T>C
ENST00000375394.7:c.3677T>C MANE Select	ENSP00000364543.2:p.Met1226Thr
ENST00000375394.6:c.3677T>C	ENSP00000364543.2:p.Met1226Thr
ENST00000465703.5:n.4407T>C
ENST00000471818.1:n.606T>C
ENST00000474839.5:c.*3049T>C	ENSP00000420470.1:n.*3049T>C
ENST00000483553.5:c.1207T>C
ENST00000491994.1:c.766T>C
NM_006929.4:c.3677T>C	NP_008860.4:p.Met1226Thr
XR_926301.3:n.3693T>C
NM_006929.5:c.3677T>C MANE Select	NP_008860.4:p.Met1226Thr