Canonical Allele Identifier: CA363491904

Gene: SKIC2

Linked Data

• gnomAD v4: 6-31969633-C-T
• MyVariant Identifiers: chr6:g.31937410C>T (hg19) ; chr6:g.31969633C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969633C>T , CM000668.2:g.31969633C>T	GRCh38
NC_000006.11:g.31937410C>T , CM000668.1:g.31937410C>T	GRCh37
NC_000006.10:g.32045389C>T	NCBI36
NG_032652.1:g.15830C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2707C>T	ENSP00000419905.1:n.*2707C>T
ENST00000485349.6:n.4135C>T
ENST00000491994.2:c.*201C>T	ENSP00000417586.2:n.*201C>T
ENST00000494058.6:n.3961C>T
ENST00000697831.1:c.3590C>T	ENSP00000513453.1:p.Pro1197Leu
ENST00000697832.1:n.3812C>T
ENST00000697834.1:n.4377C>T
ENST00000697835.1:c.*3177C>T	ENSP00000513455.1:n.*3177C>T
ENST00000697836.1:n.4013C>T
ENST00000697837.1:c.*775C>T	ENSP00000513456.1:n.*775C>T
ENST00000697838.1:c.3524C>T	ENSP00000513457.1:p.Pro1175Leu
ENST00000697839.1:n.4471C>T
ENST00000697840.1:c.3695C>T	ENSP00000513458.1:p.Pro1232Leu
ENST00000697841.1:n.4570C>T
ENST00000697842.1:n.3914C>T
ENST00000375394.7:c.3659C>T MANE Select	ENSP00000364543.2:p.Pro1220Leu
ENST00000375394.6:c.3659C>T	ENSP00000364543.2:p.Pro1220Leu
ENST00000465703.5:n.4389C>T
ENST00000471818.1:n.588C>T
ENST00000474839.5:c.*3031C>T	ENSP00000420470.1:n.*3031C>T
ENST00000483553.5:c.1189C>T
ENST00000491994.1:c.748C>T
NM_006929.4:c.3659C>T	NP_008860.4:p.Pro1220Leu
XR_926301.3:n.3675C>T
NM_006929.5:c.3659C>T MANE Select	NP_008860.4:p.Pro1220Leu