Canonical Allele Identifier: CA037346
Community Standard Title: NM_020975.6(RET):c.2111T>A (p.Val704Asp)
Gene: RET HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.43114711T>A , CM000672.2:g.43114711T>A GRCh38
NC_000010.10:g.43610159T>A , CM000672.1:g.43610159T>A GRCh37
NC_000010.9:g.42930165T>A NCBI36
NG_007489.1:g.42643T>A , LRG_518:g.42643T>A

Transcript Alleles

HGVS Amino-acid Change
NM_020975.6:c.2111T>A MANE Select NP_066124.1:p.Val704Asp
ENST00000355710.8:c.2111T>A MANE Select ENSP00000347942.3:p.Val704Asp
NM_001355216.1:c.1349T>A NP_001342145.1:p.Val450Asp
NM_020630.4:c.2111T>A , LRG_518t2:c.2111T>A NP_065681.1:p.Val704Asp
NM_020630.5:c.2111T>A NP_065681.1:p.Val704Asp
NM_020630.6:c.2111T>A NP_065681.1:p.Val704Asp
NM_020975.4:c.2111T>A , LRG_518t1:c.2111T>A NP_066124.1:p.Val704Asp
NM_020975.5:c.2111T>A NP_066124.1:p.Val704Asp
ENST00000340058.5:c.2111T>A ENSP00000344798.4:p.Val704Asp
ENST00000340058.6:c.2111T>A ENSP00000344798.4:p.Val704Asp
ENST00000355710.7:c.2111T>A ENSP00000347942.3:p.Val704Asp
ENST00000615310.4:c.1289+3479T>A ENSP00000480088.1:n.1289+3479T>A
ENST00000615310.5:c.1715T>A ENSP00000480088.2:p.Val572Asp
ENST00000671844.1:c.*705T>A ENSP00000500541.1:n.*705T>A
ENST00000672389.1:c.*705T>A ENSP00000500252.1:n.*705T>A
ENST00000683007.1:n.1685T>A
ENST00000683872.1:n.1676T>A
XM_011540027.1:c.2111T>A XP_011538329.1:p.Val704Asp