Canonical Allele Identifier: CA008821

Gene: RET

Linked Data

• ClinVar Variation Id: 142676
• ClinVar RCV Id: RCV000132029 ; RCV000474700 ; RCV003462028
• dbSNP Id: rs587782636
• ExAC: 10:43615084 G / A
• gnomAD v2: 10-43615084-G-A
• gnomAD v3: 10-43119636-G-A
• gnomAD v4: 10-43119636-G-A
• MyVariant Identifiers: chr10:g.43615084G>A (hg19) ; chr10:g.43119636G>A (hg38)
• PubMed: PMID:16469774

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43119636G>A , CM000672.2:g.43119636G>A	GRCh38
NC_000010.10:g.43615084G>A , CM000672.1:g.43615084G>A	GRCh37
NC_000010.9:g.42935090G>A	NCBI36
NG_007489.1:g.47568G>A , LRG_518:g.47568G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615310.5:c.2102G>A	ENSP00000480088.2:p.Arg701His
ENST00000683007.1:n.2072G>A
ENST00000683872.1:n.2063G>A
ENST00000340058.6:c.2498G>A	ENSP00000344798.4:p.Arg833His
ENST00000355710.8:c.2498G>A MANE Select	ENSP00000347942.3:p.Arg833His
ENST00000671844.1:c.*1092G>A	ENSP00000500541.1:n.*1092G>A
ENST00000672389.1:c.*1092G>A	ENSP00000500252.1:n.*1092G>A
ENST00000340058.5:c.2498G>A	ENSP00000344798.4:p.Arg833His
ENST00000355710.7:c.2498G>A	ENSP00000347942.3:p.Arg833His
ENST00000615310.4:c.1290-66G>A	ENSP00000480088.1:n.1290-66G>A
NM_020630.4:c.2498G>A , LRG_518t2:c.2498G>A	NP_065681.1:p.Arg833His
NM_020975.4:c.2498G>A , LRG_518t1:c.2498G>A	NP_066124.1:p.Arg833His
XM_011540027.1:c.2498G>A	XP_011538329.1:p.Arg833His
NM_001355216.1:c.1736G>A	NP_001342145.1:p.Arg579His
NM_020630.5:c.2498G>A	NP_065681.1:p.Arg833His
NM_020975.5:c.2498G>A	NP_066124.1:p.Arg833His
NM_020975.6:c.2498G>A MANE Select	NP_066124.1:p.Arg833His
NM_020630.6:c.2498G>A	NP_065681.1:p.Arg833His