Canonical Allele Identifier: CA9515886
Community Standard Title: NM_005619.5(RTN2):c.1630G>A (p.Ala544Thr)
Gene: RTN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45485716C>T , CM000681.2:g.45485716C>T GRCh38
NC_000019.9:g.45988974C>T , CM000681.1:g.45988974C>T GRCh37
NC_000019.8:g.50680814C>T NCBI36
NG_032157.1:g.16338G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005619.5:c.1630G>A MANE Select NP_005610.1:p.Ala544Thr
ENST00000245923.9:c.1630G>A MANE Select ENSP00000245923.3:p.Ala544Thr
NM_005619.4:c.1630G>A NP_005610.1:p.Ala544Thr
NM_206900.2:c.1411G>A NP_996783.1:p.Ala471Thr
NM_206900.3:c.1411G>A NP_996783.1:p.Ala471Thr
NM_206901.2:c.610G>A NP_996784.1:p.Ala204Thr
NM_206901.3:c.610G>A NP_996784.1:p.Ala204Thr
ENST00000245923.8:c.1630G>A ENSP00000245923.3:p.Ala544Thr
ENST00000344680.8:c.1411G>A ENSP00000345127.3:p.Ala471Thr
ENST00000430715.6:c.610G>A ENSP00000398178.1:p.Ala204Thr
ENST00000587597.5:c.*174G>A ENSP00000468144.1:n.*174G>A
ENST00000588036.5:n.468G>A
ENST00000590526.5:c.808G>A ENSP00000466619.1:p.Ala270Thr
ENST00000590746.5:n.194G>A
ENST00000591286.5:c.*628G>A ENSP00000467863.1:n.*628G>A
ENST00000593129.1:n.506G>A
ENST00000593187.5:n.232G>A