Canonical Allele Identifier: CA2624343295

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24238191C>T , CM000676.2:g.24238191C>T GRCh38
NC_000014.8:g.24707397C>T , CM000676.1:g.24707397C>T GRCh37
NC_000014.7:g.23777237C>T NCBI36
NG_016650.1:g.9484G>A
NG_054634.1:g.10775C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000399440.7:c.698-55C>T (GMPR2) MANE Select ENSP00000382369.2:n.698-55C>T
ENST00000348719.11:c.701-55C>T (GMPR2) ENSP00000334409.10:n.701-55C>T
ENST00000355299.8:c.698-55C>T (GMPR2) ENSP00000347449.4:n.698-55C>T
ENST00000399440.6:c.698-55C>T (GMPR2) ENSP00000382369.2:n.698-55C>T
ENST00000420554.6:c.752-55C>T (GMPR2) ENSP00000392859.2:n.752-55C>T
ENST00000456667.7:c.614-55C>T (GMPR2) ENSP00000405743.3:n.614-55C>T
ENST00000557854.5:c.752-55C>T (GMPR2) ENSP00000454038.1:n.752-55C>T
ENST00000558007.1:n.4C>T (GMPR2)
ENST00000558483.5:c.278-55C>T (GMPR2) ENSP00000453139.1:n.278-55C>T
ENST00000558865.5:c.236-55C>T (GMPR2) ENSP00000454138.1:n.236-55C>T
ENST00000559104.5:c.653-55C>T (GMPR2) ENSP00000453355.1:n.653-55C>T
ENST00000559287.5:c.*494-55C>T (GMPR2) ENSP00000453594.1:n.*494-55C>T
ENST00000559836.5:c.698-55C>T (GMPR2) ENSP00000453299.1:n.698-55C>T
ENST00000559910.5:c.599-55C>T (GMPR2) ENSP00000453537.1:n.599-55C>T
ENST00000559943.1:c.123-398C>T (GMPR2)
ENST00000561038.5:c.*620-55C>T (GMPR2) ENSP00000452670.1:n.*620-55C>T
ENST00000620807.4:c.698-55C>T (GMPR2) ENSP00000480342.1:n.698-55C>T
NM_001002000.2:c.698-55C>T (GMPR2) NP_001002000.1:n.698-55C>T
NM_001002001.2:c.698-55C>T (GMPR2) NP_001002001.1:n.698-55C>T
NM_001002002.2:c.698-55C>T (GMPR2) NP_001002002.1:n.698-55C>T
NM_001283021.1:c.590-55C>T (GMPR2) NP_001269950.1:n.590-55C>T
NM_001283022.1:c.752-55C>T (GMPR2) NP_001269951.1:n.752-55C>T
NM_001283023.1:c.614-55C>T (GMPR2) NP_001269952.1:n.614-55C>T
NM_016576.4:c.752-55C>T (GMPR2) NP_057660.2:n.752-55C>T
NR_104265.1:n.1183-55C>T (GMPR2)
XM_005267528.2:c.1221+1873G>A (TINF2) XP_005267585.1:n.1221+1873G>A
XM_005267740.3:c.698-55C>T (GMPR2) XP_005267797.1:n.698-55C>T
XM_005267741.3:c.698-55C>T (GMPR2) XP_005267798.1:n.698-55C>T
XM_005267742.2:c.698-55C>T (GMPR2) XP_005267799.1:n.698-55C>T
XM_006720165.2:c.590-55C>T (GMPR2) XP_006720228.1:n.590-55C>T
NM_001351022.1:c.698-55C>T (GMPR2) NP_001337951.1:n.698-55C>T
NM_001351023.1:c.698-55C>T (GMPR2) NP_001337952.1:n.698-55C>T
NM_001351024.1:c.590-55C>T (GMPR2) NP_001337953.1:n.590-55C>T
NM_001351025.1:c.590-55C>T (GMPR2) NP_001337954.1:n.590-55C>T
NM_001351026.1:c.590-55C>T (GMPR2) NP_001337955.1:n.590-55C>T
XM_005267742.3:c.698-55C>T (GMPR2) XP_005267799.1:n.698-55C>T
XM_017021356.1:c.590-55C>T (GMPR2) XP_016876845.1:n.590-55C>T
XM_017021360.1:c.209-55C>T (GMPR2) XP_016876849.1:n.209-55C>T
NM_001002000.3:c.698-55C>T (GMPR2) NP_001002000.1:n.698-55C>T
NM_001002001.3:c.698-55C>T (GMPR2) NP_001002001.1:n.698-55C>T
NM_001002002.3:c.698-55C>T (GMPR2) MANE Select NP_001002002.1:n.698-55C>T
NM_001283021.2:c.590-55C>T (GMPR2) NP_001269950.1:n.590-55C>T
NM_001283022.2:c.752-55C>T (GMPR2) NP_001269951.1:n.752-55C>T
NM_001283023.2:c.614-55C>T (GMPR2) NP_001269952.1:n.614-55C>T
NM_001351022.2:c.698-55C>T (GMPR2) NP_001337951.1:n.698-55C>T
NM_001351023.2:c.698-55C>T (GMPR2) NP_001337952.1:n.698-55C>T
NM_001351024.2:c.590-55C>T (GMPR2) NP_001337953.1:n.590-55C>T
NM_001351025.2:c.590-55C>T (GMPR2) NP_001337954.1:n.590-55C>T
NM_001351026.2:c.590-55C>T (GMPR2) NP_001337955.1:n.590-55C>T
NM_016576.5:c.752-55C>T (GMPR2) NP_057660.2:n.752-55C>T
NR_104265.2:n.983-55C>T (GMPR2)