Canonical Allele Identifier: CA376550063
Community Standard Title: NM_020975.6(RET):c.1522+2T>C
Gene: RET HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.43111467T>C , CM000672.2:g.43111467T>C GRCh38
NC_000010.10:g.43606915T>C , CM000672.1:g.43606915T>C GRCh37
NC_000010.9:g.42926921T>C NCBI36
NG_007489.1:g.39399T>C , LRG_518:g.39399T>C

Transcript Alleles

HGVS Amino-acid Change
NM_020975.6:c.1522+2T>C MANE Select NP_066124.1:n.1522+2T>C
ENST00000355710.8:c.1522+2T>C MANE Select ENSP00000347942.3:n.1522+2T>C
NM_001355216.1:c.760+2T>C NP_001342145.1:n.760+2T>C
NM_020630.4:c.1522+2T>C , LRG_518t2:c.1522+2T>C NP_065681.1:n.1522+2T>C
NM_020630.5:c.1522+2T>C NP_065681.1:n.1522+2T>C
NM_020630.6:c.1522+2T>C NP_065681.1:n.1522+2T>C
NM_020975.4:c.1522+2T>C , LRG_518t1:c.1522+2T>C NP_066124.1:n.1522+2T>C
NM_020975.5:c.1522+2T>C NP_066124.1:n.1522+2T>C
ENST00000340058.5:c.1522+2T>C ENSP00000344798.4:n.1522+2T>C
ENST00000340058.6:c.1522+2T>C ENSP00000344798.4:n.1522+2T>C
ENST00000355710.7:c.1522+2T>C ENSP00000347942.3:n.1522+2T>C
ENST00000498820.5:c.74-632T>C ENSP00000419080.1:n.74-632T>C
ENST00000615310.4:c.1289+235T>C ENSP00000480088.1:n.1289+235T>C
ENST00000615310.5:c.1126+2T>C ENSP00000480088.2:n.1126+2T>C
ENST00000671844.1:c.*116+2T>C ENSP00000500541.1:n.*116+2T>C
ENST00000672389.1:c.*116+2T>C ENSP00000500252.1:n.*116+2T>C
ENST00000683007.1:n.1096+2T>C
ENST00000683872.1:n.283+2T>C
XM_011540027.1:c.1522+2T>C XP_011538329.1:n.1522+2T>C