Canonical Allele Identifier: CA366711915

Gene: RNF216

Linked Data

• MyVariant Identifiers: chr7:g.5680977T>G (hg19) ; chr7:g.5641346T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5641346T>G , CM000669.2:g.5641346T>G	GRCh38
NC_000007.13:g.5680977T>G , CM000669.1:g.5680977T>G	GRCh37
NC_000007.12:g.5647503T>G	NCBI36
NG_029374.1:g.145385A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389902.8:c.2190A>C MANE Select	ENSP00000374552.3:p.Arg730Ser
ENST00000389900.8:c.*1307A>C	ENSP00000374550.4:n.*1307A>C
ENST00000389902.7:c.2190A>C	ENSP00000374552.3:p.Arg730Ser
ENST00000425013.6:c.2019A>C	ENSP00000404602.2:p.Arg673Ser
ENST00000469375.1:n.407A>C
NM_207111.3:c.2190A>C	NP_996994.1:p.Arg730Ser
NM_207116.2:c.2019A>C	NP_996999.1:p.Arg673Ser
XM_005249785.2:c.2190A>C	XP_005249842.1:p.Arg730Ser
XM_006715748.1:c.885A>C	XP_006715811.1:p.Arg295Ser
XM_011515434.1:c.2190A>C	XP_011513736.1:p.Arg730Ser
XM_011515436.1:c.885A>C	XP_011513738.1:p.Arg295Ser
XM_011515436.2:c.885A>C	XP_011513738.1:p.Arg295Ser
XM_017012363.2:c.2019A>C	XP_016867852.1:p.Arg673Ser
XM_024446805.1:c.2190A>C	XP_024302573.1:p.Arg730Ser
XM_024446806.1:c.885A>C	XP_024302574.1:p.Arg295Ser
XM_024446807.1:c.885A>C	XP_024302575.1:p.Arg295Ser
NM_001377156.1:c.2019A>C	NP_001364085.1:p.Arg673Ser
NM_207111.4:c.2190A>C MANE Select	NP_996994.1:p.Arg730Ser
NM_207116.3:c.2019A>C	NP_996999.1:p.Arg673Ser