Canonical Allele Identifier: CA2678079016

Gene: SKIC2

Linked Data

• gnomAD v4: 6-31969720-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969720C>T , CM000668.2:g.31969720C>T	GRCh38
NC_000006.11:g.31937497C>T , CM000668.1:g.31937497C>T	GRCh37
NC_000006.10:g.32045476C>T	NCBI36
NG_032652.1:g.15917C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2794C>T	ENSP00000419905.1:n.*2794C>T
ENST00000485349.6:n.4222C>T
ENST00000491994.2:c.*288C>T	ENSP00000417586.2:n.*288C>T
ENST00000494058.6:n.4048C>T
ENST00000697831.1:c.*5C>T	ENSP00000513453.1:n.*5C>T
ENST00000697832.1:n.3899C>T
ENST00000697834.1:n.4464C>T
ENST00000697835.1:c.*3264C>T	ENSP00000513455.1:n.*3264C>T
ENST00000697837.1:c.*862C>T	ENSP00000513456.1:n.*862C>T
ENST00000697838.1:c.*5C>T	ENSP00000513457.1:n.*5C>T
ENST00000697839.1:n.4558C>T
ENST00000697840.1:c.*5C>T	ENSP00000513458.1:n.*5C>T
ENST00000697841.1:n.4657C>T
ENST00000697842.1:n.4001C>T
ENST00000375394.7:c.*5C>T MANE Select	ENSP00000364543.2:n.*5C>T
ENST00000375394.6:c.*5C>T	ENSP00000364543.2:n.*5C>T
ENST00000465703.5:n.4476C>T
ENST00000471818.1:n.675C>T
ENST00000474839.5:c.*3118C>T	ENSP00000420470.1:n.*3118C>T
ENST00000483553.5:c.1276C>T
ENST00000491994.1:c.835C>T
NM_006929.4:c.*5C>T	NP_008860.4:n.*5C>T
XR_926301.3:n.3762C>T
NM_006929.5:c.*5C>T MANE Select	NP_008860.4:n.*5C>T