Canonical Allele Identifier: CA2678079030

Gene: SKIC2

Linked Data

• gnomAD v4: 6-31969735-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969735G>T , CM000668.2:g.31969735G>T	GRCh38
NC_000006.11:g.31937512G>T , CM000668.1:g.31937512G>T	GRCh37
NC_000006.10:g.32045491G>T	NCBI36
NG_032652.1:g.15932G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2809G>T	ENSP00000419905.1:n.*2809G>T
ENST00000494058.6:n.4063G>T
ENST00000697831.1:c.*20G>T	ENSP00000513453.1:n.*20G>T
ENST00000697832.1:n.3914G>T
ENST00000697835.1:c.*3279G>T	ENSP00000513455.1:n.*3279G>T
ENST00000697837.1:c.*877G>T	ENSP00000513456.1:n.*877G>T
ENST00000697838.1:c.*20G>T	ENSP00000513457.1:n.*20G>T
ENST00000697840.1:c.*20G>T	ENSP00000513458.1:n.*20G>T
ENST00000697842.1:n.4016G>T
ENST00000375394.7:c.*20G>T MANE Select	ENSP00000364543.2:n.*20G>T
ENST00000375394.6:c.*20G>T	ENSP00000364543.2:n.*20G>T
ENST00000465703.5:n.4491G>T
ENST00000471818.1:n.690G>T
ENST00000474839.5:c.*3133G>T	ENSP00000420470.1:n.*3133G>T
ENST00000483553.5:c.1291G>T
ENST00000491994.1:c.850G>T
NM_006929.4:c.*20G>T	NP_008860.4:n.*20G>T
XR_926301.3:n.3777G>T
NM_006929.5:c.*20G>T MANE Select	NP_008860.4:n.*20G>T