Canonical Allele Identifier: CA9515868

Gene: RTN2

Linked Data

• ClinVar Variation Id: 329546
• ClinVar RCV Id: RCV000299599
• dbSNP Id: rs569611116
• ExAC: 19:45988915 A / G
• gnomAD v2: 19-45988915-A-G
• gnomAD v3: 19-45485657-A-G
• gnomAD v4: 19-45485657-A-G
• MyVariant Identifiers: chr19:g.45988915A>G (hg19) ; chr19:g.45485657A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45485657A>G , CM000681.2:g.45485657A>G	GRCh38
NC_000019.9:g.45988915A>G , CM000681.1:g.45988915A>G	GRCh37
NC_000019.8:g.50680755A>G	NCBI36
NG_032157.1:g.16397T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245923.9:c.*51T>C MANE Select	ENSP00000245923.3:n.*51T>C
ENST00000245923.8:c.*51T>C	ENSP00000245923.3:n.*51T>C
ENST00000344680.8:c.*51T>C	ENSP00000345127.3:n.*51T>C
ENST00000430715.6:c.*51T>C	ENSP00000398178.1:n.*51T>C
ENST00000587597.5:c.*233T>C	ENSP00000468144.1:n.*233T>C
ENST00000588036.5:n.527T>C
ENST00000590526.5:c.*51T>C	ENSP00000466619.1:n.*51T>C
ENST00000591286.5:c.*687T>C	ENSP00000467863.1:n.*687T>C
ENST00000593187.5:n.291T>C
NM_005619.4:c.*51T>C	NP_005610.1:n.*51T>C
NM_206900.2:c.*51T>C	NP_996783.1:n.*51T>C
NM_206901.2:c.*51T>C	NP_996784.1:n.*51T>C
NM_005619.5:c.*51T>C MANE Select	NP_005610.1:n.*51T>C
NM_206900.3:c.*51T>C	NP_996783.1:n.*51T>C
NM_206901.3:c.*51T>C	NP_996784.1:n.*51T>C