Canonical Allele Identifier: CA3729084

Gene: SKIC2

Linked Data

• ClinVar Variation Id: 1984818
• ClinVar RCV Id: RCV002775688
• dbSNP Id: rs765221177
• ExAC: 6:31927896 G / A
• gnomAD v2: 6-31927896-G-A
• gnomAD v4: 6-31960119-G-A
• COSMIC: COSM3624900 ; COSM3624901
• MyVariant Identifiers: chr6:g.31927896G>A (hg19) ; chr6:g.31960119G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31960119G>A , CM000668.2:g.31960119G>A	GRCh38
NC_000006.11:g.31927896G>A , CM000668.1:g.31927896G>A	GRCh37
NC_000006.10:g.32035875G>A	NCBI36
NG_032652.1:g.6316G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.236G>A	ENSP00000419905.1:p.Arg79Gln
ENST00000483553.6:c.236G>A	ENSP00000420332.2:p.Arg79Gln
ENST00000485349.6:n.277G>A
ENST00000491994.2:c.236G>A	ENSP00000417586.2:p.Arg79Gln
ENST00000494058.6:n.293G>A
ENST00000697831.1:c.236G>A	ENSP00000513453.1:p.Arg79Gln
ENST00000697832.1:n.312G>A
ENST00000697833.1:c.236G>A	ENSP00000513454.1:p.Arg79Gln
ENST00000697834.1:n.288G>A
ENST00000697835.1:c.236G>A	ENSP00000513455.1:p.Arg79His
ENST00000697836.1:n.272G>A
ENST00000697837.1:c.236G>A	ENSP00000513456.1:p.Arg79Gln
ENST00000697838.1:c.101G>A	ENSP00000513457.1:p.Arg34Gln
ENST00000697839.1:n.258G>A
ENST00000697840.1:c.236G>A	ENSP00000513458.1:p.Arg79Gln
ENST00000697841.1:n.247G>A
ENST00000697842.1:n.236G>A
ENST00000375394.7:c.236G>A MANE Select	ENSP00000364543.2:p.Arg79Gln
ENST00000375394.6:c.236G>A	ENSP00000364543.2:p.Arg79Gln
ENST00000461073.5:c.236G>A	ENSP00000419905.1:p.Arg79Gln
ENST00000465703.5:n.288G>A
ENST00000474839.5:c.126+719G>A	ENSP00000420470.1:n.126+719G>A
ENST00000488648.5:n.312G>A
ENST00000628157.1:c.126+719G>A	ENSP00000485707.1:n.126+719G>A
NM_006929.4:c.236G>A	NP_008860.4:p.Arg79Gln
XM_006715168.2:c.236G>A	XP_006715231.1:p.Arg79Gln
XM_011514815.1:c.236G>A	XP_011513117.1:p.Arg79Gln
XR_926301.1:n.324G>A
XM_011514815.3:c.236G>A	XP_011513117.1:p.Arg79Gln
XR_001743586.2:n.272G>A
XR_926301.3:n.272G>A
NM_006929.5:c.236G>A MANE Select	NP_008860.4:p.Arg79Gln