Canonical Allele Identifier: CA363492572

Gene: SKIC2

Linked Data

• gnomAD v4: 6-31969702-T-C
• MyVariant Identifiers: chr6:g.31937479T>C (hg19) ; chr6:g.31969702T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969702T>C , CM000668.2:g.31969702T>C	GRCh38
NC_000006.11:g.31937479T>C , CM000668.1:g.31937479T>C	GRCh37
NC_000006.10:g.32045458T>C	NCBI36
NG_032652.1:g.15899T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2776T>C	ENSP00000419905.1:n.*2776T>C
ENST00000485349.6:n.4204T>C
ENST00000491994.2:c.*270T>C	ENSP00000417586.2:n.*270T>C
ENST00000494058.6:n.4030T>C
ENST00000697831.1:c.3659T>C	ENSP00000513453.1:p.Leu1220Pro
ENST00000697832.1:n.3881T>C
ENST00000697834.1:n.4446T>C
ENST00000697835.1:c.*3246T>C	ENSP00000513455.1:n.*3246T>C
ENST00000697837.1:c.*844T>C	ENSP00000513456.1:n.*844T>C
ENST00000697838.1:c.3593T>C	ENSP00000513457.1:p.Leu1198Pro
ENST00000697839.1:n.4540T>C
ENST00000697840.1:c.3764T>C	ENSP00000513458.1:p.Leu1255Pro
ENST00000697841.1:n.4639T>C
ENST00000697842.1:n.3983T>C
ENST00000375394.7:c.3728T>C MANE Select	ENSP00000364543.2:p.Leu1243Pro
ENST00000375394.6:c.3728T>C	ENSP00000364543.2:p.Leu1243Pro
ENST00000465703.5:n.4458T>C
ENST00000471818.1:n.657T>C
ENST00000474839.5:c.*3100T>C	ENSP00000420470.1:n.*3100T>C
ENST00000483553.5:c.1258T>C
ENST00000491994.1:c.817T>C
NM_006929.4:c.3728T>C	NP_008860.4:p.Leu1243Pro
XR_926301.3:n.3744T>C
NM_006929.5:c.3728T>C MANE Select	NP_008860.4:p.Leu1243Pro