Canonical Allele Identifier: CA449813904

Gene: SKIC2

Linked Data

• dbSNP Id: rs2151817677
• gnomAD v4: 6-31969393-G-A
• MyVariant Identifiers: chr6:g.31937170G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969393G>A , CM000668.2:g.31969393G>A	GRCh38
NC_000006.11:g.31937170G>A , CM000668.1:g.31937170G>A	GRCh37
NC_000006.10:g.32045149G>A	NCBI36
NG_032652.1:g.15590G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2467G>A	ENSP00000419905.1:n.*2467G>A
ENST00000483553.6:c.*480G>A	ENSP00000420332.2:n.*480G>A
ENST00000485349.6:n.3989G>A
ENST00000491994.2:c.3513G>A	ENSP00000417586.2:p.Glu1171=
ENST00000494058.6:n.3815G>A
ENST00000697831.1:c.3444G>A	ENSP00000513453.1:p.Glu1148=
ENST00000697832.1:n.3666G>A
ENST00000697833.1:c.*461G>A	ENSP00000513454.1:n.*461G>A
ENST00000697834.1:n.4137G>A
ENST00000697835.1:c.*3031G>A	ENSP00000513455.1:n.*3031G>A
ENST00000697836.1:n.3844G>A
ENST00000697837.1:c.*629G>A	ENSP00000513456.1:n.*629G>A
ENST00000697838.1:c.3378G>A	ENSP00000513457.1:p.Glu1126=
ENST00000697839.1:n.4231G>A
ENST00000697840.1:c.3549G>A	ENSP00000513458.1:p.Glu1183=
ENST00000697841.1:n.4330G>A
ENST00000697842.1:n.3768G>A
ENST00000375394.7:c.3513G>A MANE Select	ENSP00000364543.2:p.Glu1171=
ENST00000375394.6:c.3513G>A	ENSP00000364543.2:p.Glu1171=
ENST00000465703.5:n.4149G>A
ENST00000470453.1:n.382+77G>A
ENST00000471818.1:n.442G>A
ENST00000474839.5:c.*2885G>A	ENSP00000420470.1:n.*2885G>A
ENST00000483553.5:c.949G>A
ENST00000485349.5:n.719G>A
ENST00000491994.1:c.508G>A
NM_006929.4:c.3513G>A	NP_008860.4:p.Glu1171=
XR_001743586.2:n.3612G>A
XR_926301.3:n.3529G>A
NM_006929.5:c.3513G>A MANE Select	NP_008860.4:p.Glu1171=