Canonical Allele Identifier: CA449814150

Gene: SKIC2

Linked Data

• dbSNP Id: rs1336679462
• MyVariant Identifiers: chr6:g.31937381G>A (hg19) ; chr6:g.31969604G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969604G>A , CM000668.2:g.31969604G>A	GRCh38
NC_000006.11:g.31937381G>A , CM000668.1:g.31937381G>A	GRCh37
NC_000006.10:g.32045360G>A	NCBI36
NG_032652.1:g.15801G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2678G>A	ENSP00000419905.1:n.*2678G>A
ENST00000485349.6:n.4106G>A
ENST00000491994.2:c.*172G>A	ENSP00000417586.2:n.*172G>A
ENST00000494058.6:n.3932G>A
ENST00000697831.1:c.3561G>A	ENSP00000513453.1:p.Leu1187=
ENST00000697832.1:n.3783G>A
ENST00000697834.1:n.4348G>A
ENST00000697835.1:c.*3148G>A	ENSP00000513455.1:n.*3148G>A
ENST00000697836.1:n.3984G>A
ENST00000697837.1:c.*746G>A	ENSP00000513456.1:n.*746G>A
ENST00000697838.1:c.3495G>A	ENSP00000513457.1:p.Leu1165=
ENST00000697839.1:n.4442G>A
ENST00000697840.1:c.3666G>A	ENSP00000513458.1:p.Leu1222=
ENST00000697841.1:n.4541G>A
ENST00000697842.1:n.3885G>A
ENST00000375394.7:c.3630G>A MANE Select	ENSP00000364543.2:p.Leu1210=
ENST00000375394.6:c.3630G>A	ENSP00000364543.2:p.Leu1210=
ENST00000465703.5:n.4360G>A
ENST00000471818.1:n.559G>A
ENST00000474839.5:c.*3002G>A	ENSP00000420470.1:n.*3002G>A
ENST00000483553.5:c.1160G>A
ENST00000491994.1:c.719G>A
NM_006929.4:c.3630G>A	NP_008860.4:p.Leu1210=
XR_926301.3:n.3646G>A
NM_006929.5:c.3630G>A MANE Select	NP_008860.4:p.Leu1210=