Canonical Allele Identifier: CA349205

Gene: RET

Linked Data

• ClinVar Variation Id: 219396
• ClinVar RCV Id: RCV000205043 ; RCV000564885 ; RCV002478724
• dbSNP Id: rs371731991
• gnomAD v2: 10-43604668-G-C
• gnomAD v4: 10-43109220-G-C
• MyVariant Identifiers: chr10:g.43604668G>C (hg19) ; chr10:g.43109220G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43109220G>C , CM000672.2:g.43109220G>C	GRCh38
NC_000010.10:g.43604668G>C , CM000672.1:g.43604668G>C	GRCh37
NC_000010.9:g.42924674G>C	NCBI36
NG_007489.1:g.37152G>C , LRG_518:g.37152G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615310.5:c.868-1987G>C	ENSP00000480088.2:n.868-1987G>C
ENST00000683007.1:n.827G>C
ENST00000683872.1:n.14G>C
ENST00000340058.6:c.1253G>C	ENSP00000344798.4:p.Arg418Pro
ENST00000355710.8:c.1253G>C MANE Select	ENSP00000347942.3:p.Arg418Pro
ENST00000671844.1:c.626-1987G>C	ENSP00000500541.1:n.626-1987G>C
ENST00000672389.1:c.74-1987G>C	ENSP00000500252.1:n.74-1987G>C
ENST00000340058.5:c.1253G>C	ENSP00000344798.4:p.Arg418Pro
ENST00000355710.7:c.1253G>C	ENSP00000347942.3:p.Arg418Pro
ENST00000498820.5:c.74-2879G>C	ENSP00000419080.1:n.74-2879G>C
ENST00000615310.4:c.1253G>C	ENSP00000480088.1:p.Arg418Pro
NM_020630.4:c.1253G>C , LRG_518t2:c.1253G>C	NP_065681.1:p.Arg418Pro
NM_020975.4:c.1253G>C , LRG_518t1:c.1253G>C	NP_066124.1:p.Arg418Pro
XM_011540027.1:c.1253G>C	XP_011538329.1:p.Arg418Pro
NM_001355216.1:c.491G>C	NP_001342145.1:p.Arg164Pro
NM_020630.5:c.1253G>C	NP_065681.1:p.Arg418Pro
NM_020975.5:c.1253G>C	NP_066124.1:p.Arg418Pro
NM_020975.6:c.1253G>C MANE Select	NP_066124.1:p.Arg418Pro
NM_020630.6:c.1253G>C	NP_065681.1:p.Arg418Pro