Canonical Allele Identifier: CA3729100

Gene: SKIC2

Linked Data

• dbSNP Id: rs773400104
• ExAC: 6:31928023 G / T
• gnomAD v2: 6-31928023-G-T
• gnomAD v4: 6-31960246-G-T
• MyVariant Identifiers: chr6:g.31928023G>T (hg19) ; chr6:g.31960246G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31960246G>T , CM000668.2:g.31960246G>T	GRCh38
NC_000006.11:g.31928023G>T , CM000668.1:g.31928023G>T	GRCh37
NC_000006.10:g.32036002G>T	NCBI36
NG_032652.1:g.6443G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.263G>T	ENSP00000419905.1:p.Trp88Leu
ENST00000483553.6:c.263G>T	ENSP00000420332.2:p.Trp88Leu
ENST00000485349.6:n.304G>T
ENST00000491994.2:c.263G>T	ENSP00000417586.2:p.Trp88Leu
ENST00000494058.6:n.320G>T
ENST00000697831.1:c.263G>T	ENSP00000513453.1:p.Trp88Leu
ENST00000697832.1:n.339G>T
ENST00000697833.1:c.263G>T	ENSP00000513454.1:p.Trp88Leu
ENST00000697834.1:n.315G>T
ENST00000697835.1:c.282G>T	ENSP00000513455.1:p.Leu94=
ENST00000697836.1:n.299G>T
ENST00000697837.1:c.263G>T	ENSP00000513456.1:p.Trp88Leu
ENST00000697838.1:c.128G>T	ENSP00000513457.1:p.Trp43Leu
ENST00000697839.1:n.285G>T
ENST00000697840.1:c.263G>T	ENSP00000513458.1:p.Trp88Leu
ENST00000697841.1:n.274G>T
ENST00000697842.1:n.263G>T
ENST00000375394.7:c.263G>T MANE Select	ENSP00000364543.2:p.Trp88Leu
ENST00000375394.6:c.263G>T	ENSP00000364543.2:p.Trp88Leu
ENST00000461073.5:c.263G>T	ENSP00000419905.1:p.Trp88Leu
ENST00000465703.5:n.315G>T
ENST00000474839.5:c.127-795G>T	ENSP00000420470.1:n.127-795G>T
ENST00000488648.5:n.339G>T
ENST00000628157.1:c.127-795G>T	ENSP00000485707.1:n.127-795G>T
NM_006929.4:c.263G>T	NP_008860.4:p.Trp88Leu
XM_006715168.2:c.263G>T	XP_006715231.1:p.Trp88Leu
XM_011514815.1:c.263G>T	XP_011513117.1:p.Trp88Leu
XR_926301.1:n.351G>T
XM_011514815.3:c.263G>T	XP_011513117.1:p.Trp88Leu
XR_001743586.2:n.299G>T
XR_926301.3:n.299G>T
NM_006929.5:c.263G>T MANE Select	NP_008860.4:p.Trp88Leu