Canonical Allele Identifier: CA449813917

Gene: SKIC2

Linked Data

• gnomAD v4: 6-31969405-G-A
• MyVariant Identifiers: chr6:g.31937182G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969405G>A , CM000668.2:g.31969405G>A	GRCh38
NC_000006.11:g.31937182G>A , CM000668.1:g.31937182G>A	GRCh37
NC_000006.10:g.32045161G>A	NCBI36
NG_032652.1:g.15602G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2479G>A	ENSP00000419905.1:n.*2479G>A
ENST00000483553.6:c.*492G>A	ENSP00000420332.2:n.*492G>A
ENST00000485349.6:n.4001G>A
ENST00000491994.2:c.3525G>A	ENSP00000417586.2:p.Glu1175=
ENST00000494058.6:n.3827G>A
ENST00000697831.1:c.3456G>A	ENSP00000513453.1:p.Glu1152=
ENST00000697832.1:n.3678G>A
ENST00000697833.1:c.*473G>A	ENSP00000513454.1:n.*473G>A
ENST00000697834.1:n.4149G>A
ENST00000697835.1:c.*3043G>A	ENSP00000513455.1:n.*3043G>A
ENST00000697836.1:n.3856G>A
ENST00000697837.1:c.*641G>A	ENSP00000513456.1:n.*641G>A
ENST00000697838.1:c.3390G>A	ENSP00000513457.1:p.Glu1130=
ENST00000697839.1:n.4243G>A
ENST00000697840.1:c.3561G>A	ENSP00000513458.1:p.Glu1187=
ENST00000697841.1:n.4342G>A
ENST00000697842.1:n.3780G>A
ENST00000375394.7:c.3525G>A MANE Select	ENSP00000364543.2:p.Glu1175=
ENST00000375394.6:c.3525G>A	ENSP00000364543.2:p.Glu1175=
ENST00000465703.5:n.4161G>A
ENST00000470453.1:n.382+89G>A
ENST00000471818.1:n.454G>A
ENST00000474839.5:c.*2897G>A	ENSP00000420470.1:n.*2897G>A
ENST00000483553.5:c.961G>A
ENST00000485349.5:n.731G>A
ENST00000491994.1:c.520G>A
NM_006929.4:c.3525G>A	NP_008860.4:p.Glu1175=
XR_001743586.2:n.3624G>A
XR_926301.3:n.3541G>A
NM_006929.5:c.3525G>A MANE Select	NP_008860.4:p.Glu1175=