Canonical Allele Identifier: CA363435713

Gene: SKIC2

Linked Data

• dbSNP Id: rs1772390162
• gnomAD v3: 6-31960251-C-T
• gnomAD v4: 6-31960251-C-T
• MyVariant Identifiers: chr6:g.31928028C>T (hg19) ; chr6:g.31960251C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31960251C>T , CM000668.2:g.31960251C>T	GRCh38
NC_000006.11:g.31928028C>T , CM000668.1:g.31928028C>T	GRCh37
NC_000006.10:g.32036007C>T	NCBI36
NG_032652.1:g.6448C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.268C>T	ENSP00000419905.1:p.Leu90Phe
ENST00000483553.6:c.268C>T	ENSP00000420332.2:p.Leu90Phe
ENST00000485349.6:n.309C>T
ENST00000491994.2:c.268C>T	ENSP00000417586.2:p.Leu90Phe
ENST00000494058.6:n.325C>T
ENST00000697831.1:c.268C>T	ENSP00000513453.1:p.Leu90Phe
ENST00000697832.1:n.344C>T
ENST00000697833.1:c.268C>T	ENSP00000513454.1:p.Leu90Phe
ENST00000697834.1:n.320C>T
ENST00000697835.1:c.287C>T	ENSP00000513455.1:p.Ser96Phe
ENST00000697836.1:n.304C>T
ENST00000697837.1:c.268C>T	ENSP00000513456.1:p.Leu90Phe
ENST00000697838.1:c.133C>T	ENSP00000513457.1:p.Leu45Phe
ENST00000697839.1:n.290C>T
ENST00000697840.1:c.268C>T	ENSP00000513458.1:p.Leu90Phe
ENST00000697841.1:n.279C>T
ENST00000697842.1:n.268C>T
ENST00000375394.7:c.268C>T MANE Select	ENSP00000364543.2:p.Leu90Phe
ENST00000375394.6:c.268C>T	ENSP00000364543.2:p.Leu90Phe
ENST00000461073.5:c.268C>T	ENSP00000419905.1:p.Leu90Phe
ENST00000465703.5:n.320C>T
ENST00000474839.5:c.127-790C>T	ENSP00000420470.1:n.127-790C>T
ENST00000488648.5:n.344C>T
ENST00000628157.1:c.127-790C>T	ENSP00000485707.1:n.127-790C>T
NM_006929.4:c.268C>T	NP_008860.4:p.Leu90Phe
XM_006715168.2:c.268C>T	XP_006715231.1:p.Leu90Phe
XM_011514815.1:c.268C>T	XP_011513117.1:p.Leu90Phe
XR_926301.1:n.356C>T
XM_011514815.3:c.268C>T	XP_011513117.1:p.Leu90Phe
XR_001743586.2:n.304C>T
XR_926301.3:n.304C>T
NM_006929.5:c.268C>T MANE Select	NP_008860.4:p.Leu90Phe