Canonical Allele Identifier: CA363490107

Gene: SKIC2

Linked Data

• gnomAD v4: 6-31969381-T-G
• MyVariant Identifiers: chr6:g.31937158T>G (hg19) ; chr6:g.31969381T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969381T>G , CM000668.2:g.31969381T>G	GRCh38
NC_000006.11:g.31937158T>G , CM000668.1:g.31937158T>G	GRCh37
NC_000006.10:g.32045137T>G	NCBI36
NG_032652.1:g.15578T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2455T>G	ENSP00000419905.1:n.*2455T>G
ENST00000483553.6:c.*468T>G	ENSP00000420332.2:n.*468T>G
ENST00000485349.6:n.3977T>G
ENST00000491994.2:c.3501T>G	ENSP00000417586.2:p.Phe1167Leu
ENST00000494058.6:n.3803T>G
ENST00000697831.1:c.3432T>G	ENSP00000513453.1:p.Phe1144Leu
ENST00000697832.1:n.3654T>G
ENST00000697833.1:c.*449T>G	ENSP00000513454.1:n.*449T>G
ENST00000697834.1:n.4125T>G
ENST00000697835.1:c.*3019T>G	ENSP00000513455.1:n.*3019T>G
ENST00000697836.1:n.3832T>G
ENST00000697837.1:c.*617T>G	ENSP00000513456.1:n.*617T>G
ENST00000697838.1:c.3366T>G	ENSP00000513457.1:p.Phe1122Leu
ENST00000697839.1:n.4219T>G
ENST00000697840.1:c.3537T>G	ENSP00000513458.1:p.Phe1179Leu
ENST00000697841.1:n.4318T>G
ENST00000697842.1:n.3756T>G
ENST00000375394.7:c.3501T>G MANE Select	ENSP00000364543.2:p.Phe1167Leu
ENST00000375394.6:c.3501T>G	ENSP00000364543.2:p.Phe1167Leu
ENST00000465703.5:n.4137T>G
ENST00000470453.1:n.382+65T>G
ENST00000471818.1:n.430T>G
ENST00000474839.5:c.*2873T>G	ENSP00000420470.1:n.*2873T>G
ENST00000483553.5:c.937T>G
ENST00000485349.5:n.707T>G
ENST00000491994.1:c.496T>G
NM_006929.4:c.3501T>G	NP_008860.4:p.Phe1167Leu
XR_001743586.2:n.3600T>G
XR_926301.3:n.3517T>G
NM_006929.5:c.3501T>G MANE Select	NP_008860.4:p.Phe1167Leu