Canonical Allele Identifier: CA363489791

Gene: SKIC2

Linked Data

• dbSNP Id: rs1190828809
• gnomAD v2: 6-31937112-G-C
• gnomAD v4: 6-31969335-G-C
• MyVariant Identifiers: chr6:g.31937112G>C (hg19) ; chr6:g.31969335G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969335G>C , CM000668.2:g.31969335G>C	GRCh38
NC_000006.11:g.31937112G>C , CM000668.1:g.31937112G>C	GRCh37
NC_000006.10:g.32045091G>C	NCBI36
NG_032652.1:g.15532G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2409G>C	ENSP00000419905.1:n.*2409G>C
ENST00000483553.6:c.*422G>C	ENSP00000420332.2:n.*422G>C
ENST00000485349.6:n.3931G>C
ENST00000491994.2:c.3455G>C	ENSP00000417586.2:p.Cys1152Ser
ENST00000494058.6:n.3757G>C
ENST00000697831.1:c.3386G>C	ENSP00000513453.1:p.Cys1129Ser
ENST00000697832.1:n.3608G>C
ENST00000697833.1:c.*403G>C	ENSP00000513454.1:n.*403G>C
ENST00000697834.1:n.4079G>C
ENST00000697835.1:c.*2973G>C	ENSP00000513455.1:n.*2973G>C
ENST00000697836.1:n.3786G>C
ENST00000697837.1:c.*571G>C	ENSP00000513456.1:n.*571G>C
ENST00000697838.1:c.3320G>C	ENSP00000513457.1:p.Cys1107Ser
ENST00000697839.1:n.4173G>C
ENST00000697840.1:c.3491G>C	ENSP00000513458.1:p.Cys1164Ser
ENST00000697841.1:n.4272G>C
ENST00000697842.1:n.3710G>C
ENST00000375394.7:c.3455G>C MANE Select	ENSP00000364543.2:p.Cys1152Ser
ENST00000375394.6:c.3455G>C	ENSP00000364543.2:p.Cys1152Ser
ENST00000465703.5:n.4091G>C
ENST00000470453.1:n.382+19G>C
ENST00000471818.1:n.384G>C
ENST00000474839.5:c.*2827G>C	ENSP00000420470.1:n.*2827G>C
ENST00000483553.5:c.891G>C
ENST00000485349.5:n.661G>C
ENST00000491994.1:c.450G>C
NM_006929.4:c.3455G>C	NP_008860.4:p.Cys1152Ser
XR_001743586.2:n.3554G>C
XR_926301.3:n.3471G>C
NM_006929.5:c.3455G>C MANE Select	NP_008860.4:p.Cys1152Ser