Canonical Allele Identifier: CA008378
Gene: RET HGNC NCBI

Linked Data

ClinVar Variation Id: 13918
ClinVar RCV Id: RCV000014939 RCV000014940 RCV000405235 RCV000417418 RCV000424817 RCV000432112 RCV000442512 RCV000444799 RCV000459040
dbSNP Id: rs77709286
gnomAD v2: 10-43609950-C-G
COSMIC: COSM975
MyVariant Identifiers: chr10:g.43609950C>G (hg19) chr10:g.43114502C>G (hg38)
PubMed: PMID:100 PMID:317 PMID:790 PMID:791 PMID:898 PMID:7907913 PMID:8570194 PMID:12000816 PMID:17898100 PMID:20065189 PMID:20943719 PMID:21422803 PMID:21470995 PMID:22025146 PMID:23056499 PMID:25157968
CIViC: CA008378
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.43114502C>G , CM000672.2:g.43114502C>G GRCh38
NC_000010.10:g.43609950C>G , CM000672.1:g.43609950C>G GRCh37
NC_000010.9:g.42929956C>G NCBI36
NG_007489.1:g.42434C>G , LRG_518:g.42434C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000615310.5:c.1506C>G ENSP00000480088.2:p.Cys502Trp
ENST00000683007.1:n.1476C>G
ENST00000683872.1:n.1467C>G
ENST00000340058.6:c.1902C>G ENSP00000344798.4:p.Cys634Trp
ENST00000355710.8:c.1902C>G MANE Select ENSP00000347942.3:p.Cys634Trp
ENST00000671844.1:c.*496C>G ENSP00000500541.1:n.*496C>G
ENST00000672389.1:c.*496C>G ENSP00000500252.1:n.*496C>G
ENST00000340058.5:c.1902C>G ENSP00000344798.4:p.Cys634Trp
ENST00000355710.7:c.1902C>G ENSP00000347942.3:p.Cys634Trp
ENST00000498820.5:c.453C>G ENSP00000419080.1:p.Cys151Trp
ENST00000615310.4:c.1289+3270C>G ENSP00000480088.1:n.1289+3270C>G
NM_020630.4:c.1902C>G , LRG_518t2:c.1902C>G NP_065681.1:p.Cys634Trp
NM_020975.4:c.1902C>G , LRG_518t1:c.1902C>G NP_066124.1:p.Cys634Trp
XM_011540027.1:c.1902C>G XP_011538329.1:p.Cys634Trp
NM_001355216.1:c.1140C>G NP_001342145.1:p.Cys380Trp
NM_020630.5:c.1902C>G NP_065681.1:p.Cys634Trp
NM_020975.5:c.1902C>G NP_066124.1:p.Cys634Trp
NM_020975.6:c.1902C>G MANE Select NP_066124.1:p.Cys634Trp
NM_020630.6:c.1902C>G NP_065681.1:p.Cys634Trp
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