Canonical Allele Identifier: CA206266645

Gene: RET

Linked Data

• ClinVar Variation Id: 486318
• ClinVar RCV Id: RCV000566849 ; RCV000654615
• dbSNP Id: rs202029768
• gnomAD v2: 10-43615184-C-T
• gnomAD v3: 10-43119736-C-T
• gnomAD v4: 10-43119736-C-T
• MyVariant Identifiers: chr10:g.43615184C>T (hg19) ; chr10:g.43119736C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43119736C>T , CM000672.2:g.43119736C>T	GRCh38
NC_000010.10:g.43615184C>T , CM000672.1:g.43615184C>T	GRCh37
NC_000010.9:g.42935190C>T	NCBI36
NG_007489.1:g.47668C>T , LRG_518:g.47668C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615310.5:c.2202C>T	ENSP00000480088.2:p.Ala734=
ENST00000683007.1:n.2172C>T
ENST00000683872.1:n.2163C>T
ENST00000340058.6:c.2598C>T	ENSP00000344798.4:p.Ala866=
ENST00000355710.8:c.2598C>T MANE Select	ENSP00000347942.3:p.Ala866=
ENST00000671844.1:c.*1192C>T	ENSP00000500541.1:n.*1192C>T
ENST00000672389.1:c.*1192C>T	ENSP00000500252.1:n.*1192C>T
ENST00000340058.5:c.2598C>T	ENSP00000344798.4:p.Ala866=
ENST00000355710.7:c.2598C>T	ENSP00000347942.3:p.Ala866=
ENST00000615310.4:c.1324C>T	ENSP00000480088.1:p.Arg442Ter
NM_020630.4:c.2598C>T , LRG_518t2:c.2598C>T	NP_065681.1:p.Ala866=
NM_020975.4:c.2598C>T , LRG_518t1:c.2598C>T	NP_066124.1:p.Ala866=
XM_011540027.1:c.2598C>T	XP_011538329.1:p.Ala866=
NM_001355216.1:c.1836C>T	NP_001342145.1:p.Ala612=
NM_020630.5:c.2598C>T	NP_065681.1:p.Ala866=
NM_020975.5:c.2598C>T	NP_066124.1:p.Ala866=
NM_020975.6:c.2598C>T MANE Select	NP_066124.1:p.Ala866=
NM_020630.6:c.2598C>T	NP_065681.1:p.Ala866=