Canonical Allele Identifier: CA363491835

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937404G>C (hg19) ; chr6:g.31969627G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969627G>C , CM000668.2:g.31969627G>C	GRCh38
NC_000006.11:g.31937404G>C , CM000668.1:g.31937404G>C	GRCh37
NC_000006.10:g.32045383G>C	NCBI36
NG_032652.1:g.15824G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2701G>C	ENSP00000419905.1:n.*2701G>C
ENST00000485349.6:n.4129G>C
ENST00000491994.2:c.*195G>C	ENSP00000417586.2:n.*195G>C
ENST00000494058.6:n.3955G>C
ENST00000697831.1:c.3584G>C	ENSP00000513453.1:p.Gly1195Ala
ENST00000697832.1:n.3806G>C
ENST00000697834.1:n.4371G>C
ENST00000697835.1:c.*3171G>C	ENSP00000513455.1:n.*3171G>C
ENST00000697836.1:n.4007G>C
ENST00000697837.1:c.*769G>C	ENSP00000513456.1:n.*769G>C
ENST00000697838.1:c.3518G>C	ENSP00000513457.1:p.Gly1173Ala
ENST00000697839.1:n.4465G>C
ENST00000697840.1:c.3689G>C	ENSP00000513458.1:p.Gly1230Ala
ENST00000697841.1:n.4564G>C
ENST00000697842.1:n.3908G>C
ENST00000375394.7:c.3653G>C MANE Select	ENSP00000364543.2:p.Gly1218Ala
ENST00000375394.6:c.3653G>C	ENSP00000364543.2:p.Gly1218Ala
ENST00000465703.5:n.4383G>C
ENST00000471818.1:n.582G>C
ENST00000474839.5:c.*3025G>C	ENSP00000420470.1:n.*3025G>C
ENST00000483553.5:c.1183G>C
ENST00000491994.1:c.742G>C
NM_006929.4:c.3653G>C	NP_008860.4:p.Gly1218Ala
XR_926301.3:n.3669G>C
NM_006929.5:c.3653G>C MANE Select	NP_008860.4:p.Gly1218Ala