Canonical Allele Identifier: CA363491786

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937400G>A (hg19) ; chr6:g.31969623G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969623G>A , CM000668.2:g.31969623G>A	GRCh38
NC_000006.11:g.31937400G>A , CM000668.1:g.31937400G>A	GRCh37
NC_000006.10:g.32045379G>A	NCBI36
NG_032652.1:g.15820G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2697G>A	ENSP00000419905.1:n.*2697G>A
ENST00000485349.6:n.4125G>A
ENST00000491994.2:c.*191G>A	ENSP00000417586.2:n.*191G>A
ENST00000494058.6:n.3951G>A
ENST00000697831.1:c.3580G>A	ENSP00000513453.1:p.Val1194Ile
ENST00000697832.1:n.3802G>A
ENST00000697834.1:n.4367G>A
ENST00000697835.1:c.*3167G>A	ENSP00000513455.1:n.*3167G>A
ENST00000697836.1:n.4003G>A
ENST00000697837.1:c.*765G>A	ENSP00000513456.1:n.*765G>A
ENST00000697838.1:c.3514G>A	ENSP00000513457.1:p.Val1172Ile
ENST00000697839.1:n.4461G>A
ENST00000697840.1:c.3685G>A	ENSP00000513458.1:p.Val1229Ile
ENST00000697841.1:n.4560G>A
ENST00000697842.1:n.3904G>A
ENST00000375394.7:c.3649G>A MANE Select	ENSP00000364543.2:p.Val1217Ile
ENST00000375394.6:c.3649G>A	ENSP00000364543.2:p.Val1217Ile
ENST00000465703.5:n.4379G>A
ENST00000471818.1:n.578G>A
ENST00000474839.5:c.*3021G>A	ENSP00000420470.1:n.*3021G>A
ENST00000483553.5:c.1179G>A
ENST00000491994.1:c.738G>A
NM_006929.4:c.3649G>A	NP_008860.4:p.Val1217Ile
XR_926301.3:n.3665G>A
NM_006929.5:c.3649G>A MANE Select	NP_008860.4:p.Val1217Ile