Canonical Allele Identifier: CA449813878

Gene: SKIC2

Linked Data

• gnomAD v4: 6-31969373-C-T
• MyVariant Identifiers: chr6:g.31937150C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969373C>T , CM000668.2:g.31969373C>T	GRCh38
NC_000006.11:g.31937150C>T , CM000668.1:g.31937150C>T	GRCh37
NC_000006.10:g.32045129C>T	NCBI36
NG_032652.1:g.15570C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2447C>T	ENSP00000419905.1:n.*2447C>T
ENST00000483553.6:c.*460C>T	ENSP00000420332.2:n.*460C>T
ENST00000485349.6:n.3969C>T
ENST00000491994.2:c.3493C>T	ENSP00000417586.2:p.Leu1165=
ENST00000494058.6:n.3795C>T
ENST00000697831.1:c.3424C>T	ENSP00000513453.1:p.Leu1142=
ENST00000697832.1:n.3646C>T
ENST00000697833.1:c.*441C>T	ENSP00000513454.1:n.*441C>T
ENST00000697834.1:n.4117C>T
ENST00000697835.1:c.*3011C>T	ENSP00000513455.1:n.*3011C>T
ENST00000697836.1:n.3824C>T
ENST00000697837.1:c.*609C>T	ENSP00000513456.1:n.*609C>T
ENST00000697838.1:c.3358C>T	ENSP00000513457.1:p.Leu1120=
ENST00000697839.1:n.4211C>T
ENST00000697840.1:c.3529C>T	ENSP00000513458.1:p.Leu1177=
ENST00000697841.1:n.4310C>T
ENST00000697842.1:n.3748C>T
ENST00000375394.7:c.3493C>T MANE Select	ENSP00000364543.2:p.Leu1165=
ENST00000375394.6:c.3493C>T	ENSP00000364543.2:p.Leu1165=
ENST00000465703.5:n.4129C>T
ENST00000470453.1:n.382+57C>T
ENST00000471818.1:n.422C>T
ENST00000474839.5:c.*2865C>T	ENSP00000420470.1:n.*2865C>T
ENST00000483553.5:c.929C>T
ENST00000485349.5:n.699C>T
ENST00000491994.1:c.488C>T
NM_006929.4:c.3493C>T	NP_008860.4:p.Leu1165=
XR_001743586.2:n.3592C>T
XR_926301.3:n.3509C>T
NM_006929.5:c.3493C>T MANE Select	NP_008860.4:p.Leu1165=