Canonical Allele Identifier: CA363490055

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937153A>C (hg19) ; chr6:g.31969376A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969376A>C , CM000668.2:g.31969376A>C	GRCh38
NC_000006.11:g.31937153A>C , CM000668.1:g.31937153A>C	GRCh37
NC_000006.10:g.32045132A>C	NCBI36
NG_032652.1:g.15573A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2450A>C	ENSP00000419905.1:n.*2450A>C
ENST00000483553.6:c.*463A>C	ENSP00000420332.2:n.*463A>C
ENST00000485349.6:n.3972A>C
ENST00000491994.2:c.3496A>C	ENSP00000417586.2:p.Asn1166His
ENST00000494058.6:n.3798A>C
ENST00000697831.1:c.3427A>C	ENSP00000513453.1:p.Asn1143His
ENST00000697832.1:n.3649A>C
ENST00000697833.1:c.*444A>C	ENSP00000513454.1:n.*444A>C
ENST00000697834.1:n.4120A>C
ENST00000697835.1:c.*3014A>C	ENSP00000513455.1:n.*3014A>C
ENST00000697836.1:n.3827A>C
ENST00000697837.1:c.*612A>C	ENSP00000513456.1:n.*612A>C
ENST00000697838.1:c.3361A>C	ENSP00000513457.1:p.Asn1121His
ENST00000697839.1:n.4214A>C
ENST00000697840.1:c.3532A>C	ENSP00000513458.1:p.Asn1178His
ENST00000697841.1:n.4313A>C
ENST00000697842.1:n.3751A>C
ENST00000375394.7:c.3496A>C MANE Select	ENSP00000364543.2:p.Asn1166His
ENST00000375394.6:c.3496A>C	ENSP00000364543.2:p.Asn1166His
ENST00000465703.5:n.4132A>C
ENST00000470453.1:n.382+60A>C
ENST00000471818.1:n.425A>C
ENST00000474839.5:c.*2868A>C	ENSP00000420470.1:n.*2868A>C
ENST00000483553.5:c.932A>C
ENST00000485349.5:n.702A>C
ENST00000491994.1:c.491A>C
NM_006929.4:c.3496A>C	NP_008860.4:p.Asn1166His
XR_001743586.2:n.3595A>C
XR_926301.3:n.3512A>C
NM_006929.5:c.3496A>C MANE Select	NP_008860.4:p.Asn1166His