Canonical Allele Identifier: CA363490243

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937172T>C (hg19) ; chr6:g.31969395T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969395T>C , CM000668.2:g.31969395T>C	GRCh38
NC_000006.11:g.31937172T>C , CM000668.1:g.31937172T>C	GRCh37
NC_000006.10:g.32045151T>C	NCBI36
NG_032652.1:g.15592T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2469T>C	ENSP00000419905.1:n.*2469T>C
ENST00000483553.6:c.*482T>C	ENSP00000420332.2:n.*482T>C
ENST00000485349.6:n.3991T>C
ENST00000491994.2:c.3515T>C	ENSP00000417586.2:p.Val1172Ala
ENST00000494058.6:n.3817T>C
ENST00000697831.1:c.3446T>C	ENSP00000513453.1:p.Val1149Ala
ENST00000697832.1:n.3668T>C
ENST00000697833.1:c.*463T>C	ENSP00000513454.1:n.*463T>C
ENST00000697834.1:n.4139T>C
ENST00000697835.1:c.*3033T>C	ENSP00000513455.1:n.*3033T>C
ENST00000697836.1:n.3846T>C
ENST00000697837.1:c.*631T>C	ENSP00000513456.1:n.*631T>C
ENST00000697838.1:c.3380T>C	ENSP00000513457.1:p.Val1127Ala
ENST00000697839.1:n.4233T>C
ENST00000697840.1:c.3551T>C	ENSP00000513458.1:p.Val1184Ala
ENST00000697841.1:n.4332T>C
ENST00000697842.1:n.3770T>C
ENST00000375394.7:c.3515T>C MANE Select	ENSP00000364543.2:p.Val1172Ala
ENST00000375394.6:c.3515T>C	ENSP00000364543.2:p.Val1172Ala
ENST00000465703.5:n.4151T>C
ENST00000470453.1:n.382+79T>C
ENST00000471818.1:n.444T>C
ENST00000474839.5:c.*2887T>C	ENSP00000420470.1:n.*2887T>C
ENST00000483553.5:c.951T>C
ENST00000485349.5:n.721T>C
ENST00000491994.1:c.510T>C
NM_006929.4:c.3515T>C	NP_008860.4:p.Val1172Ala
XR_001743586.2:n.3614T>C
XR_926301.3:n.3531T>C
NM_006929.5:c.3515T>C MANE Select	NP_008860.4:p.Val1172Ala