Canonical Allele Identifier: CA453640246

Gene: RNF216

Linked Data

• dbSNP Id: rs1787717716
• MyVariant Identifiers: chr7:g.5680920A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5641289A>G , CM000669.2:g.5641289A>G	GRCh38
NC_000007.13:g.5680920A>G , CM000669.1:g.5680920A>G	GRCh37
NC_000007.12:g.5647446A>G	NCBI36
NG_029374.1:g.145442T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389902.8:c.2247T>C MANE Select	ENSP00000374552.3:p.Ser749=
ENST00000389900.8:c.*1364T>C	ENSP00000374550.4:n.*1364T>C
ENST00000389902.7:c.2247T>C	ENSP00000374552.3:p.Ser749=
ENST00000425013.6:c.2076T>C	ENSP00000404602.2:p.Ser692=
ENST00000469375.1:n.464T>C
NM_207111.3:c.2247T>C	NP_996994.1:p.Ser749=
NM_207116.2:c.2076T>C	NP_996999.1:p.Ser692=
XM_005249785.2:c.2247T>C	XP_005249842.1:p.Ser749=
XM_006715748.1:c.942T>C	XP_006715811.1:p.Ser314=
XM_011515434.1:c.2247T>C	XP_011513736.1:p.Ser749=
XM_011515436.1:c.942T>C	XP_011513738.1:p.Ser314=
XM_011515436.2:c.942T>C	XP_011513738.1:p.Ser314=
XM_017012363.2:c.2076T>C	XP_016867852.1:p.Ser692=
XM_024446805.1:c.2247T>C	XP_024302573.1:p.Ser749=
XM_024446806.1:c.942T>C	XP_024302574.1:p.Ser314=
XM_024446807.1:c.942T>C	XP_024302575.1:p.Ser314=
NM_001377156.1:c.2076T>C	NP_001364085.1:p.Ser692=
NM_207111.4:c.2247T>C MANE Select	NP_996994.1:p.Ser749=
NM_207116.3:c.2076T>C	NP_996999.1:p.Ser692=