Canonical Allele Identifier: CA449813857

Gene: SKIC2

Linked Data

• gnomAD v4: 6-31969360-A-G
• MyVariant Identifiers: chr6:g.31937137A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969360A>G , CM000668.2:g.31969360A>G	GRCh38
NC_000006.11:g.31937137A>G , CM000668.1:g.31937137A>G	GRCh37
NC_000006.10:g.32045116A>G	NCBI36
NG_032652.1:g.15557A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2434A>G	ENSP00000419905.1:n.*2434A>G
ENST00000483553.6:c.*447A>G	ENSP00000420332.2:n.*447A>G
ENST00000485349.6:n.3956A>G
ENST00000491994.2:c.3480A>G	ENSP00000417586.2:p.Glu1160=
ENST00000494058.6:n.3782A>G
ENST00000697831.1:c.3411A>G	ENSP00000513453.1:p.Glu1137=
ENST00000697832.1:n.3633A>G
ENST00000697833.1:c.*428A>G	ENSP00000513454.1:n.*428A>G
ENST00000697834.1:n.4104A>G
ENST00000697835.1:c.*2998A>G	ENSP00000513455.1:n.*2998A>G
ENST00000697836.1:n.3811A>G
ENST00000697837.1:c.*596A>G	ENSP00000513456.1:n.*596A>G
ENST00000697838.1:c.3345A>G	ENSP00000513457.1:p.Glu1115=
ENST00000697839.1:n.4198A>G
ENST00000697840.1:c.3516A>G	ENSP00000513458.1:p.Glu1172=
ENST00000697841.1:n.4297A>G
ENST00000697842.1:n.3735A>G
ENST00000375394.7:c.3480A>G MANE Select	ENSP00000364543.2:p.Glu1160=
ENST00000375394.6:c.3480A>G	ENSP00000364543.2:p.Glu1160=
ENST00000465703.5:n.4116A>G
ENST00000470453.1:n.382+44A>G
ENST00000471818.1:n.409A>G
ENST00000474839.5:c.*2852A>G	ENSP00000420470.1:n.*2852A>G
ENST00000483553.5:c.916A>G
ENST00000485349.5:n.686A>G
ENST00000491994.1:c.475A>G
NM_006929.4:c.3480A>G	NP_008860.4:p.Glu1160=
XR_001743586.2:n.3579A>G
XR_926301.3:n.3496A>G
NM_006929.5:c.3480A>G MANE Select	NP_008860.4:p.Glu1160=