Canonical Allele Identifier: CA008989

Gene: RET

Linked Data

• ClinVar Variation Id: 13951
• ClinVar RCV Id: RCV000014978 ; RCV000014979 ; RCV000227193 ; RCV000394478 ; RCV000431535 ; RCV000441854 ; RCV000445273 ; RCV000425892 ; RCV001016276 ; RCV001804732 ; RCV002490368 ; RCV003387503
• dbSNP Id: rs75234356
• gnomAD v2: 10-43615592-T-G
• gnomAD v3: 10-43120144-T-G
• gnomAD v4: 10-43120144-T-G
• MyVariant Identifiers: chr10:g.43615592T>G (hg19) ; chr10:g.43120144T>G (hg38)
• PubMed: PMID:55 ; PMID:93 ; PMID:100 ; PMID:352 ; PMID:471 ; PMID:987 ; PMID:9398735 ; PMID:10024437 ; PMID:10445857 ; PMID:12686527 ; PMID:15292360 ; PMID:15753368 ; PMID:17178962 ; PMID:17895320 ; PMID:18062802 ; PMID:20516206 ; PMID:23295303 ; PMID:24449023 ; PMID:25810047 ; PMID:25887804

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43120144T>G , CM000672.2:g.43120144T>G	GRCh38
NC_000010.10:g.43615592T>G , CM000672.1:g.43615592T>G	GRCh37
NC_000010.9:g.42935598T>G	NCBI36
NG_007489.1:g.48076T>G , LRG_518:g.48076T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615310.5:c.2275T>G	ENSP00000480088.2:p.Ser759Ala
ENST00000683007.1:n.2245T>G
ENST00000683872.1:n.2236T>G
ENST00000340058.6:c.2671T>G	ENSP00000344798.4:p.Ser891Ala
ENST00000355710.8:c.2671T>G MANE Select	ENSP00000347942.3:p.Ser891Ala
ENST00000671844.1:c.*1265T>G	ENSP00000500541.1:n.*1265T>G
ENST00000672389.1:c.*1265T>G	ENSP00000500252.1:n.*1265T>G
ENST00000340058.5:c.2671T>G	ENSP00000344798.4:p.Ser891Ala
ENST00000355710.7:c.2671T>G	ENSP00000347942.3:p.Ser891Ala
ENST00000615310.4:c.*20T>G	ENSP00000480088.1:n.*20T>G
NM_020630.4:c.2671T>G , LRG_518t2:c.2671T>G	NP_065681.1:p.Ser891Ala
NM_020975.4:c.2671T>G , LRG_518t1:c.2671T>G	NP_066124.1:p.Ser891Ala
XM_011540027.1:c.2671T>G	XP_011538329.1:p.Ser891Ala
NM_001355216.1:c.1909T>G	NP_001342145.1:p.Ser637Ala
NM_020630.5:c.2671T>G	NP_065681.1:p.Ser891Ala
NM_020975.5:c.2671T>G	NP_066124.1:p.Ser891Ala
NM_020975.6:c.2671T>G MANE Select	NP_066124.1:p.Ser891Ala
NM_020630.6:c.2671T>G	NP_065681.1:p.Ser891Ala