Canonical Allele Identifier: CA039590

Gene: RET

Linked Data

• ClinVar Variation Id: 2744330
• ClinVar RCV Id: RCV003531688
• dbSNP Id: rs754912942
• ExAC: 10:43596085 C / G
• gnomAD v2: 10-43596085-C-G
• gnomAD v4: 10-43100637-C-G
• MyVariant Identifiers: chr10:g.43596085C>G (hg19) ; chr10:g.43100637C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43100637C>G , CM000672.2:g.43100637C>G	GRCh38
NC_000010.10:g.43596085C>G , CM000672.1:g.43596085C>G	GRCh37
NC_000010.9:g.42916091C>G	NCBI36
NG_007489.1:g.28569C>G , LRG_518:g.28569C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615310.5:c.252C>G	ENSP00000480088.2:p.Asn84Lys
ENST00000683278.1:c.154C>G
ENST00000684216.1:c.154C>G
ENST00000340058.6:c.252C>G	ENSP00000344798.4:p.Asn84Lys
ENST00000355710.8:c.252C>G MANE Select	ENSP00000347942.3:p.Asn84Lys
ENST00000638465.1:c.154C>G
ENST00000640619.1:c.154C>G
ENST00000671844.1:c.252C>G	ENSP00000500541.1:p.Asn84Lys
ENST00000672389.1:c.74-10570C>G	ENSP00000500252.1:n.74-10570C>G
ENST00000340058.5:c.252C>G	ENSP00000344798.4:p.Asn84Lys
ENST00000355710.7:c.252C>G	ENSP00000347942.3:p.Asn84Lys
ENST00000498820.5:c.74-11462C>G	ENSP00000419080.1:n.74-11462C>G
ENST00000615310.4:c.252C>G	ENSP00000480088.1:p.Asn84Lys
NM_020630.4:c.252C>G , LRG_518t2:c.252C>G	NP_065681.1:p.Asn84Lys
NM_020975.4:c.252C>G , LRG_518t1:c.252C>G	NP_066124.1:p.Asn84Lys
XM_011540027.1:c.252C>G	XP_011538329.1:p.Asn84Lys
NM_020630.5:c.252C>G	NP_065681.1:p.Asn84Lys
NM_020975.5:c.252C>G	NP_066124.1:p.Asn84Lys
NM_020975.6:c.252C>G MANE Select	NP_066124.1:p.Asn84Lys
NM_020630.6:c.252C>G	NP_065681.1:p.Asn84Lys