Canonical Allele Identifier: CA376558259
Community Standard Title: NM_020975.6(RET):c.3040-2A>G
Gene: RET HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.43126573A>G , CM000672.2:g.43126573A>G GRCh38
NC_000010.10:g.43622021A>G , CM000672.1:g.43622021A>G GRCh37
NC_000010.9:g.42942027A>G NCBI36
NG_007489.1:g.54505A>G , LRG_518:g.54505A>G

Transcript Alleles

HGVS Amino-acid Change
NM_020975.6:c.3040-2A>G MANE Select NP_066124.1:n.3040-2A>G
ENST00000355710.8:c.3040-2A>G MANE Select ENSP00000347942.3:n.3040-2A>G
NM_001355216.1:c.2278-2A>G NP_001342145.1:n.2278-2A>G
NM_020630.4:c.3040-2A>G , LRG_518t2:c.3040-2A>G NP_065681.1:n.3040-2A>G
NM_020630.5:c.3040-2A>G NP_065681.1:n.3040-2A>G
NM_020630.6:c.3040-2A>G NP_065681.1:n.3040-2A>G
NM_020975.4:c.3040-2A>G , LRG_518t1:c.3040-2A>G NP_066124.1:n.3040-2A>G
NM_020975.5:c.3040-2A>G NP_066124.1:n.3040-2A>G
ENST00000340058.5:c.3040-2A>G ENSP00000344798.4:n.3040-2A>G
ENST00000340058.6:c.3040-2A>G ENSP00000344798.4:n.3040-2A>G
ENST00000355710.7:c.3040-2A>G ENSP00000347942.3:n.3040-2A>G
ENST00000615310.4:c.*389-2A>G ENSP00000480088.1:n.*389-2A>G
ENST00000615310.5:c.2644-2A>G ENSP00000480088.2:n.2644-2A>G
ENST00000671844.1:c.*1634-2A>G ENSP00000500541.1:n.*1634-2A>G
ENST00000672389.1:c.*1634-2A>G ENSP00000500252.1:n.*1634-2A>G
ENST00000683007.1:n.2614-2A>G
XM_011540027.1:c.3040-2A>G XP_011538329.1:n.3040-2A>G