Canonical Allele Identifier: CA043982

Gene: RET

Linked Data

• ClinVar Variation Id: 216730
• ClinVar RCV Id: RCV000196923 ; RCV000245877 ; RCV001024579 ; RCV003316111 ; RCV003417724
• dbSNP Id: rs368116579
• ExAC: 10:43598034 G / A
• gnomAD v2: 10-43598034-G-A
• gnomAD v3: 10-43102586-G-A
• gnomAD v4: 10-43102586-G-A
• MyVariant Identifiers: chr10:g.43598034G>A (hg19) ; chr10:g.43102586G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43102586G>A , CM000672.2:g.43102586G>A	GRCh38
NC_000010.10:g.43598034G>A , CM000672.1:g.43598034G>A	GRCh37
NC_000010.9:g.42918040G>A	NCBI36
NG_007489.1:g.30518G>A , LRG_518:g.30518G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000615310.5:c.582G>A	ENSP00000480088.2:p.Gln194=
ENST00000683278.1:c.503G>A
ENST00000684216.1:c.484G>A
ENST00000340058.6:c.582G>A	ENSP00000344798.4:p.Gln194=
ENST00000355710.8:c.582G>A MANE Select	ENSP00000347942.3:p.Gln194=
ENST00000638465.1:c.524G>A
ENST00000640619.1:c.355G>A
ENST00000671844.1:c.582G>A	ENSP00000500541.1:p.Gln194=
ENST00000672389.1:c.74-8621G>A	ENSP00000500252.1:n.74-8621G>A
ENST00000340058.5:c.582G>A	ENSP00000344798.4:p.Gln194=
ENST00000355710.7:c.582G>A	ENSP00000347942.3:p.Gln194=
ENST00000498820.5:c.74-9513G>A	ENSP00000419080.1:n.74-9513G>A
ENST00000615310.4:c.582G>A	ENSP00000480088.1:p.Gln194=
NM_020630.4:c.582G>A , LRG_518t2:c.582G>A	NP_065681.1:p.Gln194=
NM_020975.4:c.582G>A , LRG_518t1:c.582G>A	NP_066124.1:p.Gln194=
XM_011540027.1:c.582G>A	XP_011538329.1:p.Gln194=
NM_020630.5:c.582G>A	NP_065681.1:p.Gln194=
NM_020975.5:c.582G>A	NP_066124.1:p.Gln194=
NM_020975.6:c.582G>A MANE Select	NP_066124.1:p.Gln194=
NM_020630.6:c.582G>A	NP_065681.1:p.Gln194=