Canonical Allele Identifier: CA449813842

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937128G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969351G>C , CM000668.2:g.31969351G>C	GRCh38
NC_000006.11:g.31937128G>C , CM000668.1:g.31937128G>C	GRCh37
NC_000006.10:g.32045107G>C	NCBI36
NG_032652.1:g.15548G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2425G>C	ENSP00000419905.1:n.*2425G>C
ENST00000483553.6:c.*438G>C	ENSP00000420332.2:n.*438G>C
ENST00000485349.6:n.3947G>C
ENST00000491994.2:c.3471G>C	ENSP00000417586.2:p.Thr1157=
ENST00000494058.6:n.3773G>C
ENST00000697831.1:c.3402G>C	ENSP00000513453.1:p.Thr1134=
ENST00000697832.1:n.3624G>C
ENST00000697833.1:c.*419G>C	ENSP00000513454.1:n.*419G>C
ENST00000697834.1:n.4095G>C
ENST00000697835.1:c.*2989G>C	ENSP00000513455.1:n.*2989G>C
ENST00000697836.1:n.3802G>C
ENST00000697837.1:c.*587G>C	ENSP00000513456.1:n.*587G>C
ENST00000697838.1:c.3336G>C	ENSP00000513457.1:p.Thr1112=
ENST00000697839.1:n.4189G>C
ENST00000697840.1:c.3507G>C	ENSP00000513458.1:p.Thr1169=
ENST00000697841.1:n.4288G>C
ENST00000697842.1:n.3726G>C
ENST00000375394.7:c.3471G>C MANE Select	ENSP00000364543.2:p.Thr1157=
ENST00000375394.6:c.3471G>C	ENSP00000364543.2:p.Thr1157=
ENST00000465703.5:n.4107G>C
ENST00000470453.1:n.382+35G>C
ENST00000471818.1:n.400G>C
ENST00000474839.5:c.*2843G>C	ENSP00000420470.1:n.*2843G>C
ENST00000483553.5:c.907G>C
ENST00000485349.5:n.677G>C
ENST00000491994.1:c.466G>C
NM_006929.4:c.3471G>C	NP_008860.4:p.Thr1157=
XR_001743586.2:n.3570G>C
XR_926301.3:n.3487G>C
NM_006929.5:c.3471G>C MANE Select	NP_008860.4:p.Thr1157=