Canonical Allele Identifier: CA449814174

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937405A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969628A>C , CM000668.2:g.31969628A>C	GRCh38
NC_000006.11:g.31937405A>C , CM000668.1:g.31937405A>C	GRCh37
NC_000006.10:g.32045384A>C	NCBI36
NG_032652.1:g.15825A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2702A>C	ENSP00000419905.1:n.*2702A>C
ENST00000485349.6:n.4130A>C
ENST00000491994.2:c.*196A>C	ENSP00000417586.2:n.*196A>C
ENST00000494058.6:n.3956A>C
ENST00000697831.1:c.3585A>C	ENSP00000513453.1:p.Gly1195=
ENST00000697832.1:n.3807A>C
ENST00000697834.1:n.4372A>C
ENST00000697835.1:c.*3172A>C	ENSP00000513455.1:n.*3172A>C
ENST00000697836.1:n.4008A>C
ENST00000697837.1:c.*770A>C	ENSP00000513456.1:n.*770A>C
ENST00000697838.1:c.3519A>C	ENSP00000513457.1:p.Gly1173=
ENST00000697839.1:n.4466A>C
ENST00000697840.1:c.3690A>C	ENSP00000513458.1:p.Gly1230=
ENST00000697841.1:n.4565A>C
ENST00000697842.1:n.3909A>C
ENST00000375394.7:c.3654A>C MANE Select	ENSP00000364543.2:p.Gly1218=
ENST00000375394.6:c.3654A>C	ENSP00000364543.2:p.Gly1218=
ENST00000465703.5:n.4384A>C
ENST00000471818.1:n.583A>C
ENST00000474839.5:c.*3026A>C	ENSP00000420470.1:n.*3026A>C
ENST00000483553.5:c.1184A>C
ENST00000491994.1:c.743A>C
NM_006929.4:c.3654A>C	NP_008860.4:p.Gly1218=
XR_926301.3:n.3670A>C
NM_006929.5:c.3654A>C MANE Select	NP_008860.4:p.Gly1218=