Canonical Allele Identifier: CA008592

Gene: RET

Linked Data

• ClinVar Variation Id: 136108
• ClinVar RCV Id: RCV000123307 ; RCV000562548 ; RCV003492551 ; RCV002483239 ; RCV003159099 ; RCV003467095
• dbSNP Id: rs527726480
• ExAC: 10:43612061 G / T
• gnomAD v2: 10-43612061-G-T
• gnomAD v3: 10-43116613-G-T
• gnomAD v4: 10-43116613-G-T
• MyVariant Identifiers: chr10:g.43612061G>T (hg19) ; chr10:g.43116613G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43116613G>T , CM000672.2:g.43116613G>T	GRCh38
NC_000010.10:g.43612061G>T , CM000672.1:g.43612061G>T	GRCh37
NC_000010.9:g.42932067G>T	NCBI36
NG_007489.1:g.44545G>T , LRG_518:g.44545G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615310.5:c.1770G>T	ENSP00000480088.2:p.Lys590Asn
ENST00000683007.1:n.1740G>T
ENST00000683872.1:n.1731G>T
ENST00000340058.6:c.2166G>T	ENSP00000344798.4:p.Lys722Asn
ENST00000355710.8:c.2166G>T MANE Select	ENSP00000347942.3:p.Lys722Asn
ENST00000671844.1:c.*760G>T	ENSP00000500541.1:n.*760G>T
ENST00000672389.1:c.*760G>T	ENSP00000500252.1:n.*760G>T
ENST00000340058.5:c.2166G>T	ENSP00000344798.4:p.Lys722Asn
ENST00000355710.7:c.2166G>T	ENSP00000347942.3:p.Lys722Asn
ENST00000615310.4:c.1290-3089G>T	ENSP00000480088.1:n.1290-3089G>T
NM_020630.4:c.2166G>T , LRG_518t2:c.2166G>T	NP_065681.1:p.Lys722Asn
NM_020975.4:c.2166G>T , LRG_518t1:c.2166G>T	NP_066124.1:p.Lys722Asn
XM_011540027.1:c.2166G>T	XP_011538329.1:p.Lys722Asn
NM_001355216.1:c.1404G>T	NP_001342145.1:p.Lys468Asn
NM_020630.5:c.2166G>T	NP_065681.1:p.Lys722Asn
NM_020975.5:c.2166G>T	NP_066124.1:p.Lys722Asn
NM_020975.6:c.2166G>T MANE Select	NP_066124.1:p.Lys722Asn
NM_020630.6:c.2166G>T	NP_065681.1:p.Lys722Asn