Canonical Allele Identifier: CA566367007

Gene: SKIC2

Linked Data

• dbSNP Id: rs1256247296
• gnomAD v2: 6-31927774-G-C
• gnomAD v3: 6-31959997-G-C
• gnomAD v4: 6-31959997-G-C
• MyVariant Identifiers: chr6:g.31927774G>C (hg19) ; chr6:g.31959997G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31959997G>C , CM000668.2:g.31959997G>C	GRCh38
NC_000006.11:g.31927774G>C , CM000668.1:g.31927774G>C	GRCh37
NC_000006.10:g.32035753G>C	NCBI36
NG_032652.1:g.6194G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.127-13G>C	ENSP00000419905.1:n.127-13G>C
ENST00000483553.6:c.127-13G>C	ENSP00000420332.2:n.127-13G>C
ENST00000485349.6:n.168-13G>C
ENST00000491994.2:c.127-13G>C	ENSP00000417586.2:n.127-13G>C
ENST00000494058.6:n.184-13G>C
ENST00000697831.1:c.127-13G>C	ENSP00000513453.1:n.127-13G>C
ENST00000697832.1:n.203-13G>C
ENST00000697833.1:c.127-13G>C	ENSP00000513454.1:n.127-13G>C
ENST00000697834.1:n.179-13G>C
ENST00000697835.1:c.127-13G>C	ENSP00000513455.1:n.127-13G>C
ENST00000697836.1:n.163-13G>C
ENST00000697837.1:c.127-13G>C	ENSP00000513456.1:n.127-13G>C
ENST00000697838.1:c.23-44G>C	ENSP00000513457.1:n.23-44G>C
ENST00000697839.1:n.149-13G>C
ENST00000697840.1:c.127-13G>C	ENSP00000513458.1:n.127-13G>C
ENST00000697841.1:n.138-13G>C
ENST00000697842.1:n.127-13G>C
ENST00000375394.7:c.127-13G>C MANE Select	ENSP00000364543.2:n.127-13G>C
ENST00000375394.6:c.127-13G>C	ENSP00000364543.2:n.127-13G>C
ENST00000461073.5:c.127-13G>C	ENSP00000419905.1:n.127-13G>C
ENST00000465703.5:n.179-13G>C
ENST00000474839.5:c.126+597G>C	ENSP00000420470.1:n.126+597G>C
ENST00000488648.5:n.203-13G>C
ENST00000628157.1:c.126+597G>C	ENSP00000485707.1:n.126+597G>C
NM_006929.4:c.127-13G>C	NP_008860.4:n.127-13G>C
XM_006715168.2:c.127-13G>C	XP_006715231.1:n.127-13G>C
XM_011514815.1:c.127-13G>C	XP_011513117.1:n.127-13G>C
XR_926301.1:n.215-13G>C
XM_011514815.3:c.127-13G>C	XP_011513117.1:n.127-13G>C
XR_001743586.2:n.163-13G>C
XR_926301.3:n.163-13G>C
NM_006929.5:c.127-13G>C MANE Select	NP_008860.4:n.127-13G>C