Canonical Allele Identifier: CA363490090

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937156T>C (hg19) ; chr6:g.31969379T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969379T>C , CM000668.2:g.31969379T>C	GRCh38
NC_000006.11:g.31937156T>C , CM000668.1:g.31937156T>C	GRCh37
NC_000006.10:g.32045135T>C	NCBI36
NG_032652.1:g.15576T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2453T>C	ENSP00000419905.1:n.*2453T>C
ENST00000483553.6:c.*466T>C	ENSP00000420332.2:n.*466T>C
ENST00000485349.6:n.3975T>C
ENST00000491994.2:c.3499T>C	ENSP00000417586.2:p.Phe1167Leu
ENST00000494058.6:n.3801T>C
ENST00000697831.1:c.3430T>C	ENSP00000513453.1:p.Phe1144Leu
ENST00000697832.1:n.3652T>C
ENST00000697833.1:c.*447T>C	ENSP00000513454.1:n.*447T>C
ENST00000697834.1:n.4123T>C
ENST00000697835.1:c.*3017T>C	ENSP00000513455.1:n.*3017T>C
ENST00000697836.1:n.3830T>C
ENST00000697837.1:c.*615T>C	ENSP00000513456.1:n.*615T>C
ENST00000697838.1:c.3364T>C	ENSP00000513457.1:p.Phe1122Leu
ENST00000697839.1:n.4217T>C
ENST00000697840.1:c.3535T>C	ENSP00000513458.1:p.Phe1179Leu
ENST00000697841.1:n.4316T>C
ENST00000697842.1:n.3754T>C
ENST00000375394.7:c.3499T>C MANE Select	ENSP00000364543.2:p.Phe1167Leu
ENST00000375394.6:c.3499T>C	ENSP00000364543.2:p.Phe1167Leu
ENST00000465703.5:n.4135T>C
ENST00000470453.1:n.382+63T>C
ENST00000471818.1:n.428T>C
ENST00000474839.5:c.*2871T>C	ENSP00000420470.1:n.*2871T>C
ENST00000483553.5:c.935T>C
ENST00000485349.5:n.705T>C
ENST00000491994.1:c.494T>C
NM_006929.4:c.3499T>C	NP_008860.4:p.Phe1167Leu
XR_001743586.2:n.3598T>C
XR_926301.3:n.3515T>C
NM_006929.5:c.3499T>C MANE Select	NP_008860.4:p.Phe1167Leu