Canonical Allele Identifier: CA008877

Gene: RET

Linked Data

• ClinVar Variation Id: 24951
• ClinVar RCV Id: RCV000205855 ; RCV000575953 ; RCV000662363 ; RCV001292765 ; RCV001574570 ; RCV003466869
• dbSNP Id: rs55947360
• ExAC: 10:43615117 G / A
• gnomAD v2: 10-43615117-G-A
• gnomAD v3: 10-43119669-G-A
• gnomAD v4: 10-43119669-G-A
• COSMIC: COSM918123 ; COSM1584951
• MyVariant Identifiers: chr10:g.43615117G>A (hg19) ; chr10:g.43119669G>A (hg38)
• PubMed: PMID:9506724 ; PMID:18058472 ; PMID:20497437 ; PMID:21479187 ; PMID:24699901 ; PMID:25425582

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43119669G>A , CM000672.2:g.43119669G>A	GRCh38
NC_000010.10:g.43615117G>A , CM000672.1:g.43615117G>A	GRCh37
NC_000010.9:g.42935123G>A	NCBI36
NG_007489.1:g.47601G>A , LRG_518:g.47601G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615310.5:c.2135G>A	ENSP00000480088.2:p.Arg712Gln
ENST00000683007.1:n.2105G>A
ENST00000683872.1:n.2096G>A
ENST00000340058.6:c.2531G>A	ENSP00000344798.4:p.Arg844Gln
ENST00000355710.8:c.2531G>A MANE Select	ENSP00000347942.3:p.Arg844Gln
ENST00000671844.1:c.*1125G>A	ENSP00000500541.1:n.*1125G>A
ENST00000672389.1:c.*1125G>A	ENSP00000500252.1:n.*1125G>A
ENST00000340058.5:c.2531G>A	ENSP00000344798.4:p.Arg844Gln
ENST00000355710.7:c.2531G>A	ENSP00000347942.3:p.Arg844Gln
ENST00000615310.4:c.1290-33G>A	ENSP00000480088.1:n.1290-33G>A
NM_020630.4:c.2531G>A , LRG_518t2:c.2531G>A	NP_065681.1:p.Arg844Gln
NM_020975.4:c.2531G>A , LRG_518t1:c.2531G>A	NP_066124.1:p.Arg844Gln
XM_011540027.1:c.2531G>A	XP_011538329.1:p.Arg844Gln
NM_001355216.1:c.1769G>A	NP_001342145.1:p.Arg590Gln
NM_020630.5:c.2531G>A	NP_065681.1:p.Arg844Gln
NM_020975.5:c.2531G>A	NP_066124.1:p.Arg844Gln
NM_020975.6:c.2531G>A MANE Select	NP_066124.1:p.Arg844Gln
NM_020630.6:c.2531G>A	NP_065681.1:p.Arg844Gln