Canonical Allele Identifier: CA363491426

Gene: SKIC2

Linked Data

• dbSNP Id: rs1773050218
• MyVariant Identifiers: chr6:g.31937367A>C (hg19) ; chr6:g.31969590A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969590A>C , CM000668.2:g.31969590A>C	GRCh38
NC_000006.11:g.31937367A>C , CM000668.1:g.31937367A>C	GRCh37
NC_000006.10:g.32045346A>C	NCBI36
NG_032652.1:g.15787A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2664A>C	ENSP00000419905.1:n.*2664A>C
ENST00000485349.6:n.4092A>C
ENST00000491994.2:c.*158A>C	ENSP00000417586.2:n.*158A>C
ENST00000494058.6:n.3918A>C
ENST00000697831.1:c.3547A>C	ENSP00000513453.1:p.Met1183Leu
ENST00000697832.1:n.3769A>C
ENST00000697833.1:c.*564A>C	ENSP00000513454.1:n.*564A>C
ENST00000697834.1:n.4334A>C
ENST00000697835.1:c.*3134A>C	ENSP00000513455.1:n.*3134A>C
ENST00000697836.1:n.3970A>C
ENST00000697837.1:c.*732A>C	ENSP00000513456.1:n.*732A>C
ENST00000697838.1:c.3481A>C	ENSP00000513457.1:p.Met1161Leu
ENST00000697839.1:n.4428A>C
ENST00000697840.1:c.3652A>C	ENSP00000513458.1:p.Met1218Leu
ENST00000697841.1:n.4527A>C
ENST00000697842.1:n.3871A>C
ENST00000375394.7:c.3616A>C MANE Select	ENSP00000364543.2:p.Met1206Leu
ENST00000375394.6:c.3616A>C	ENSP00000364543.2:p.Met1206Leu
ENST00000465703.5:n.4346A>C
ENST00000471818.1:n.545A>C
ENST00000474839.5:c.*2988A>C	ENSP00000420470.1:n.*2988A>C
ENST00000483553.5:c.1146A>C
ENST00000491994.1:c.705A>C
NM_006929.4:c.3616A>C	NP_008860.4:p.Met1206Leu
XR_926301.3:n.3632A>C
NM_006929.5:c.3616A>C MANE Select	NP_008860.4:p.Met1206Leu