Canonical Allele Identifier: CA406356586

Gene: RTN2 PPM1N

Linked Data

• dbSNP Id: rs532500975
• gnomAD v2: 19-45992710-C-A
• gnomAD v3: 19-45489452-C-A
• gnomAD v4: 19-45489452-C-A
• MyVariant Identifiers: chr19:g.45992710C>A (hg19) ; chr19:g.45489452C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45489452C>A , CM000681.2:g.45489452C>A	GRCh38
NC_000019.9:g.45992710C>A , CM000681.1:g.45992710C>A	GRCh37
NC_000019.8:g.50684550C>A	NCBI36
NG_032157.1:g.12602G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245923.9:c.1135G>T (RTN2) MANE Select	ENSP00000245923.3:p.Val379Leu
ENST00000245923.8:c.1135G>T (RTN2)	ENSP00000245923.3:p.Val379Leu
ENST00000344680.8:c.916G>T (RTN2)	ENSP00000345127.3:p.Val306Leu
ENST00000401705.5:c.-16+473C>A (PPM1N)	ENSP00000384318.1:n.-16+473C>A
ENST00000430715.6:c.115G>T (RTN2)	ENSP00000398178.1:p.Val39Leu
ENST00000587597.5:c.1135G>T (RTN2)	ENSP00000468144.1:p.Val379Leu
ENST00000588036.5:n.80-466G>T (RTN2)
ENST00000589628.1:n.102G>T (RTN2)
ENST00000590526.5:c.313G>T (RTN2)	ENSP00000466619.1:p.Val105Leu
ENST00000590746.5:n.62-3339G>T (RTN2)
ENST00000591286.5:c.*133G>T (RTN2)	ENSP00000467863.1:n.*133G>T
NM_005619.4:c.1135G>T (RTN2)	NP_005610.1:p.Val379Leu
NM_206900.2:c.916G>T (RTN2)	NP_996783.1:p.Val306Leu
NM_206901.2:c.115G>T (RTN2)	NP_996784.1:p.Val39Leu
NM_005619.5:c.1135G>T (RTN2) MANE Select	NP_005610.1:p.Val379Leu
NM_206900.3:c.916G>T (RTN2)	NP_996783.1:p.Val306Leu
NM_206901.3:c.115G>T (RTN2)	NP_996784.1:p.Val39Leu