Canonical Allele Identifier: CA449813928

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937191G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969414G>T , CM000668.2:g.31969414G>T	GRCh38
NC_000006.11:g.31937191G>T , CM000668.1:g.31937191G>T	GRCh37
NC_000006.10:g.32045170G>T	NCBI36
NG_032652.1:g.15611G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2488G>T	ENSP00000419905.1:n.*2488G>T
ENST00000483553.6:c.*501G>T	ENSP00000420332.2:n.*501G>T
ENST00000485349.6:n.4010G>T
ENST00000491994.2:c.3534G>T	ENSP00000417586.2:p.Arg1178=
ENST00000494058.6:n.3836G>T
ENST00000697831.1:c.3465G>T	ENSP00000513453.1:p.Arg1155=
ENST00000697832.1:n.3687G>T
ENST00000697833.1:c.*482G>T	ENSP00000513454.1:n.*482G>T
ENST00000697834.1:n.4158G>T
ENST00000697835.1:c.*3052G>T	ENSP00000513455.1:n.*3052G>T
ENST00000697836.1:n.3865G>T
ENST00000697837.1:c.*650G>T	ENSP00000513456.1:n.*650G>T
ENST00000697838.1:c.3399G>T	ENSP00000513457.1:p.Arg1133=
ENST00000697839.1:n.4252G>T
ENST00000697840.1:c.3570G>T	ENSP00000513458.1:p.Arg1190=
ENST00000697841.1:n.4351G>T
ENST00000697842.1:n.3789G>T
ENST00000375394.7:c.3534G>T MANE Select	ENSP00000364543.2:p.Arg1178=
ENST00000375394.6:c.3534G>T	ENSP00000364543.2:p.Arg1178=
ENST00000465703.5:n.4170G>T
ENST00000470453.1:n.382+98G>T
ENST00000471818.1:n.463G>T
ENST00000474839.5:c.*2906G>T	ENSP00000420470.1:n.*2906G>T
ENST00000483553.5:c.970G>T
ENST00000491994.1:c.529G>T
NM_006929.4:c.3534G>T	NP_008860.4:p.Arg1178=
XR_001743586.2:n.3633G>T
XR_926301.3:n.3550G>T
NM_006929.5:c.3534G>T MANE Select	NP_008860.4:p.Arg1178=