Canonical Allele Identifier: CA449813832

Gene: SKIC2

Linked Data

• gnomAD v4: 6-31969345-C-T
• MyVariant Identifiers: chr6:g.31937122C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969345C>T , CM000668.2:g.31969345C>T	GRCh38
NC_000006.11:g.31937122C>T , CM000668.1:g.31937122C>T	GRCh37
NC_000006.10:g.32045101C>T	NCBI36
NG_032652.1:g.15542C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2419C>T	ENSP00000419905.1:n.*2419C>T
ENST00000483553.6:c.*432C>T	ENSP00000420332.2:n.*432C>T
ENST00000485349.6:n.3941C>T
ENST00000491994.2:c.3465C>T	ENSP00000417586.2:p.Asn1155=
ENST00000494058.6:n.3767C>T
ENST00000697831.1:c.3396C>T	ENSP00000513453.1:p.Asn1132=
ENST00000697832.1:n.3618C>T
ENST00000697833.1:c.*413C>T	ENSP00000513454.1:n.*413C>T
ENST00000697834.1:n.4089C>T
ENST00000697835.1:c.*2983C>T	ENSP00000513455.1:n.*2983C>T
ENST00000697836.1:n.3796C>T
ENST00000697837.1:c.*581C>T	ENSP00000513456.1:n.*581C>T
ENST00000697838.1:c.3330C>T	ENSP00000513457.1:p.Asn1110=
ENST00000697839.1:n.4183C>T
ENST00000697840.1:c.3501C>T	ENSP00000513458.1:p.Asn1167=
ENST00000697841.1:n.4282C>T
ENST00000697842.1:n.3720C>T
ENST00000375394.7:c.3465C>T MANE Select	ENSP00000364543.2:p.Asn1155=
ENST00000375394.6:c.3465C>T	ENSP00000364543.2:p.Asn1155=
ENST00000465703.5:n.4101C>T
ENST00000470453.1:n.382+29C>T
ENST00000471818.1:n.394C>T
ENST00000474839.5:c.*2837C>T	ENSP00000420470.1:n.*2837C>T
ENST00000483553.5:c.901C>T
ENST00000485349.5:n.671C>T
ENST00000491994.1:c.460C>T
NM_006929.4:c.3465C>T	NP_008860.4:p.Asn1155=
XR_001743586.2:n.3564C>T
XR_926301.3:n.3481C>T
NM_006929.5:c.3465C>T MANE Select	NP_008860.4:p.Asn1155=