Canonical Allele Identifier: CA449813915

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937176A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969399A>T , CM000668.2:g.31969399A>T	GRCh38
NC_000006.11:g.31937176A>T , CM000668.1:g.31937176A>T	GRCh37
NC_000006.10:g.32045155A>T	NCBI36
NG_032652.1:g.15596A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2473A>T	ENSP00000419905.1:n.*2473A>T
ENST00000483553.6:c.*486A>T	ENSP00000420332.2:n.*486A>T
ENST00000485349.6:n.3995A>T
ENST00000491994.2:c.3519A>T	ENSP00000417586.2:p.Val1173=
ENST00000494058.6:n.3821A>T
ENST00000697831.1:c.3450A>T	ENSP00000513453.1:p.Val1150=
ENST00000697832.1:n.3672A>T
ENST00000697833.1:c.*467A>T	ENSP00000513454.1:n.*467A>T
ENST00000697834.1:n.4143A>T
ENST00000697835.1:c.*3037A>T	ENSP00000513455.1:n.*3037A>T
ENST00000697836.1:n.3850A>T
ENST00000697837.1:c.*635A>T	ENSP00000513456.1:n.*635A>T
ENST00000697838.1:c.3384A>T	ENSP00000513457.1:p.Val1128=
ENST00000697839.1:n.4237A>T
ENST00000697840.1:c.3555A>T	ENSP00000513458.1:p.Val1185=
ENST00000697841.1:n.4336A>T
ENST00000697842.1:n.3774A>T
ENST00000375394.7:c.3519A>T MANE Select	ENSP00000364543.2:p.Val1173=
ENST00000375394.6:c.3519A>T	ENSP00000364543.2:p.Val1173=
ENST00000465703.5:n.4155A>T
ENST00000470453.1:n.382+83A>T
ENST00000471818.1:n.448A>T
ENST00000474839.5:c.*2891A>T	ENSP00000420470.1:n.*2891A>T
ENST00000483553.5:c.955A>T
ENST00000485349.5:n.725A>T
ENST00000491994.1:c.514A>T
NM_006929.4:c.3519A>T	NP_008860.4:p.Val1173=
XR_001743586.2:n.3618A>T
XR_926301.3:n.3535A>T
NM_006929.5:c.3519A>T MANE Select	NP_008860.4:p.Val1173=