Canonical Allele Identifier: CA363489837

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937120A>C (hg19) ; chr6:g.31969343A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969343A>C , CM000668.2:g.31969343A>C	GRCh38
NC_000006.11:g.31937120A>C , CM000668.1:g.31937120A>C	GRCh37
NC_000006.10:g.32045099A>C	NCBI36
NG_032652.1:g.15540A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2417A>C	ENSP00000419905.1:n.*2417A>C
ENST00000483553.6:c.*430A>C	ENSP00000420332.2:n.*430A>C
ENST00000485349.6:n.3939A>C
ENST00000491994.2:c.3463A>C	ENSP00000417586.2:p.Asn1155His
ENST00000494058.6:n.3765A>C
ENST00000697831.1:c.3394A>C	ENSP00000513453.1:p.Asn1132His
ENST00000697832.1:n.3616A>C
ENST00000697833.1:c.*411A>C	ENSP00000513454.1:n.*411A>C
ENST00000697834.1:n.4087A>C
ENST00000697835.1:c.*2981A>C	ENSP00000513455.1:n.*2981A>C
ENST00000697836.1:n.3794A>C
ENST00000697837.1:c.*579A>C	ENSP00000513456.1:n.*579A>C
ENST00000697838.1:c.3328A>C	ENSP00000513457.1:p.Asn1110His
ENST00000697839.1:n.4181A>C
ENST00000697840.1:c.3499A>C	ENSP00000513458.1:p.Asn1167His
ENST00000697841.1:n.4280A>C
ENST00000697842.1:n.3718A>C
ENST00000375394.7:c.3463A>C MANE Select	ENSP00000364543.2:p.Asn1155His
ENST00000375394.6:c.3463A>C	ENSP00000364543.2:p.Asn1155His
ENST00000465703.5:n.4099A>C
ENST00000470453.1:n.382+27A>C
ENST00000471818.1:n.392A>C
ENST00000474839.5:c.*2835A>C	ENSP00000420470.1:n.*2835A>C
ENST00000483553.5:c.899A>C
ENST00000485349.5:n.669A>C
ENST00000491994.1:c.458A>C
NM_006929.4:c.3463A>C	NP_008860.4:p.Asn1155His
XR_001743586.2:n.3562A>C
XR_926301.3:n.3479A>C
NM_006929.5:c.3463A>C MANE Select	NP_008860.4:p.Asn1155His