Canonical Allele Identifier: CA363491505

Gene: SKIC2

Linked Data

• gnomAD v4: 6-31969594-G-A
• MyVariant Identifiers: chr6:g.31937371G>A (hg19) ; chr6:g.31969594G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969594G>A , CM000668.2:g.31969594G>A	GRCh38
NC_000006.11:g.31937371G>A , CM000668.1:g.31937371G>A	GRCh37
NC_000006.10:g.32045350G>A	NCBI36
NG_032652.1:g.15791G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2668G>A	ENSP00000419905.1:n.*2668G>A
ENST00000485349.6:n.4096G>A
ENST00000491994.2:c.*162G>A	ENSP00000417586.2:n.*162G>A
ENST00000494058.6:n.3922G>A
ENST00000697831.1:c.3551G>A	ENSP00000513453.1:p.Cys1184Tyr
ENST00000697832.1:n.3773G>A
ENST00000697834.1:n.4338G>A
ENST00000697835.1:c.*3138G>A	ENSP00000513455.1:n.*3138G>A
ENST00000697836.1:n.3974G>A
ENST00000697837.1:c.*736G>A	ENSP00000513456.1:n.*736G>A
ENST00000697838.1:c.3485G>A	ENSP00000513457.1:p.Cys1162Tyr
ENST00000697839.1:n.4432G>A
ENST00000697840.1:c.3656G>A	ENSP00000513458.1:p.Cys1219Tyr
ENST00000697841.1:n.4531G>A
ENST00000697842.1:n.3875G>A
ENST00000375394.7:c.3620G>A MANE Select	ENSP00000364543.2:p.Cys1207Tyr
ENST00000375394.6:c.3620G>A	ENSP00000364543.2:p.Cys1207Tyr
ENST00000465703.5:n.4350G>A
ENST00000471818.1:n.549G>A
ENST00000474839.5:c.*2992G>A	ENSP00000420470.1:n.*2992G>A
ENST00000483553.5:c.1150G>A
ENST00000491994.1:c.709G>A
NM_006929.4:c.3620G>A	NP_008860.4:p.Cys1207Tyr
XR_926301.3:n.3636G>A
NM_006929.5:c.3620G>A MANE Select	NP_008860.4:p.Cys1207Tyr