Canonical Allele Identifier: CA3730102

Gene: SKIC2

Linked Data

• dbSNP Id: rs375183559
• ExAC: 6:31937374 G / A
• gnomAD v2: 6-31937374-G-A
• gnomAD v3: 6-31969597-G-A
• gnomAD v4: 6-31969597-G-A
• MyVariant Identifiers: chr6:g.31937374G>A (hg19) ; chr6:g.31969597G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969597G>A , CM000668.2:g.31969597G>A	GRCh38
NC_000006.11:g.31937374G>A , CM000668.1:g.31937374G>A	GRCh37
NC_000006.10:g.32045353G>A	NCBI36
NG_032652.1:g.15794G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2671G>A	ENSP00000419905.1:n.*2671G>A
ENST00000485349.6:n.4099G>A
ENST00000491994.2:c.*165G>A	ENSP00000417586.2:n.*165G>A
ENST00000494058.6:n.3925G>A
ENST00000697831.1:c.3554G>A	ENSP00000513453.1:p.Arg1185His
ENST00000697832.1:n.3776G>A
ENST00000697834.1:n.4341G>A
ENST00000697835.1:c.*3141G>A	ENSP00000513455.1:n.*3141G>A
ENST00000697836.1:n.3977G>A
ENST00000697837.1:c.*739G>A	ENSP00000513456.1:n.*739G>A
ENST00000697838.1:c.3488G>A	ENSP00000513457.1:p.Arg1163His
ENST00000697839.1:n.4435G>A
ENST00000697840.1:c.3659G>A	ENSP00000513458.1:p.Arg1220His
ENST00000697841.1:n.4534G>A
ENST00000697842.1:n.3878G>A
ENST00000375394.7:c.3623G>A MANE Select	ENSP00000364543.2:p.Arg1208His
ENST00000375394.6:c.3623G>A	ENSP00000364543.2:p.Arg1208His
ENST00000465703.5:n.4353G>A
ENST00000471818.1:n.552G>A
ENST00000474839.5:c.*2995G>A	ENSP00000420470.1:n.*2995G>A
ENST00000483553.5:c.1153G>A
ENST00000491994.1:c.712G>A
NM_006929.4:c.3623G>A	NP_008860.4:p.Arg1208His
XR_926301.3:n.3639G>A
NM_006929.5:c.3623G>A MANE Select	NP_008860.4:p.Arg1208His