Canonical Allele Identifier: CA449814154

Gene: SKIC2

Linked Data

• gnomAD v4: 6-31969607-G-T
• MyVariant Identifiers: chr6:g.31937384G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969607G>T , CM000668.2:g.31969607G>T	GRCh38
NC_000006.11:g.31937384G>T , CM000668.1:g.31937384G>T	GRCh37
NC_000006.10:g.32045363G>T	NCBI36
NG_032652.1:g.15804G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2681G>T	ENSP00000419905.1:n.*2681G>T
ENST00000485349.6:n.4109G>T
ENST00000491994.2:c.*175G>T	ENSP00000417586.2:n.*175G>T
ENST00000494058.6:n.3935G>T
ENST00000697831.1:c.3564G>T	ENSP00000513453.1:p.Arg1188=
ENST00000697832.1:n.3786G>T
ENST00000697834.1:n.4351G>T
ENST00000697835.1:c.*3151G>T	ENSP00000513455.1:n.*3151G>T
ENST00000697836.1:n.3987G>T
ENST00000697837.1:c.*749G>T	ENSP00000513456.1:n.*749G>T
ENST00000697838.1:c.3498G>T	ENSP00000513457.1:p.Arg1166=
ENST00000697839.1:n.4445G>T
ENST00000697840.1:c.3669G>T	ENSP00000513458.1:p.Arg1223=
ENST00000697841.1:n.4544G>T
ENST00000697842.1:n.3888G>T
ENST00000375394.7:c.3633G>T MANE Select	ENSP00000364543.2:p.Arg1211=
ENST00000375394.6:c.3633G>T	ENSP00000364543.2:p.Arg1211=
ENST00000465703.5:n.4363G>T
ENST00000471818.1:n.562G>T
ENST00000474839.5:c.*3005G>T	ENSP00000420470.1:n.*3005G>T
ENST00000483553.5:c.1163G>T
ENST00000491994.1:c.722G>T
NM_006929.4:c.3633G>T	NP_008860.4:p.Arg1211=
XR_926301.3:n.3649G>T
NM_006929.5:c.3633G>T MANE Select	NP_008860.4:p.Arg1211=