Canonical Allele Identifier: CA363491341

Gene: SKIC2

Linked Data

• gnomAD v4: 6-31969584-G-C
• MyVariant Identifiers: chr6:g.31937361G>C (hg19) ; chr6:g.31969584G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969584G>C , CM000668.2:g.31969584G>C	GRCh38
NC_000006.11:g.31937361G>C , CM000668.1:g.31937361G>C	GRCh37
NC_000006.10:g.32045340G>C	NCBI36
NG_032652.1:g.15781G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2658G>C	ENSP00000419905.1:n.*2658G>C
ENST00000485349.6:n.4086G>C
ENST00000491994.2:c.*152G>C	ENSP00000417586.2:n.*152G>C
ENST00000494058.6:n.3912G>C
ENST00000697831.1:c.3541G>C	ENSP00000513453.1:p.Ala1181Pro
ENST00000697832.1:n.3763G>C
ENST00000697833.1:c.*558G>C	ENSP00000513454.1:n.*558G>C
ENST00000697834.1:n.4328G>C
ENST00000697835.1:c.*3128G>C	ENSP00000513455.1:n.*3128G>C
ENST00000697836.1:n.3964G>C
ENST00000697837.1:c.*726G>C	ENSP00000513456.1:n.*726G>C
ENST00000697838.1:c.3475G>C	ENSP00000513457.1:p.Ala1159Pro
ENST00000697839.1:n.4422G>C
ENST00000697840.1:c.3646G>C	ENSP00000513458.1:p.Ala1216Pro
ENST00000697841.1:n.4521G>C
ENST00000697842.1:n.3865G>C
ENST00000375394.7:c.3610G>C MANE Select	ENSP00000364543.2:p.Ala1204Pro
ENST00000375394.6:c.3610G>C	ENSP00000364543.2:p.Ala1204Pro
ENST00000465703.5:n.4340G>C
ENST00000470453.1:n.452G>C
ENST00000471818.1:n.539G>C
ENST00000474839.5:c.*2982G>C	ENSP00000420470.1:n.*2982G>C
ENST00000483553.5:c.1140G>C
ENST00000491994.1:c.699G>C
NM_006929.4:c.3610G>C	NP_008860.4:p.Ala1204Pro
XR_926301.3:n.3626G>C
NM_006929.5:c.3610G>C MANE Select	NP_008860.4:p.Ala1204Pro