Canonical Allele Identifier: CA2624343299

Gene: GMPR2 TINF2

Linked Data

• gnomAD v4: 14-24238197-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24238197G>T , CM000676.2:g.24238197G>T	GRCh38
NC_000014.8:g.24707403G>T , CM000676.1:g.24707403G>T	GRCh37
NC_000014.7:g.23777243G>T	NCBI36
NG_016650.1:g.9478C>A
NG_054634.1:g.10781G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000399440.7:c.698-49G>T (GMPR2) MANE Select	ENSP00000382369.2:n.698-49G>T
ENST00000348719.11:c.701-49G>T (GMPR2)	ENSP00000334409.10:n.701-49G>T
ENST00000355299.8:c.698-49G>T (GMPR2)	ENSP00000347449.4:n.698-49G>T
ENST00000399440.6:c.698-49G>T (GMPR2)	ENSP00000382369.2:n.698-49G>T
ENST00000420554.6:c.752-49G>T (GMPR2)	ENSP00000392859.2:n.752-49G>T
ENST00000456667.7:c.614-49G>T (GMPR2)	ENSP00000405743.3:n.614-49G>T
ENST00000557854.5:c.752-49G>T (GMPR2)	ENSP00000454038.1:n.752-49G>T
ENST00000558007.1:n.10G>T (GMPR2)
ENST00000558483.5:c.278-49G>T (GMPR2)	ENSP00000453139.1:n.278-49G>T
ENST00000558865.5:c.236-49G>T (GMPR2)	ENSP00000454138.1:n.236-49G>T
ENST00000559104.5:c.653-49G>T (GMPR2)	ENSP00000453355.1:n.653-49G>T
ENST00000559287.5:c.*494-49G>T (GMPR2)	ENSP00000453594.1:n.*494-49G>T
ENST00000559836.5:c.698-49G>T (GMPR2)	ENSP00000453299.1:n.698-49G>T
ENST00000559910.5:c.599-49G>T (GMPR2)	ENSP00000453537.1:n.599-49G>T
ENST00000559943.1:c.123-392G>T (GMPR2)
ENST00000561038.5:c.*620-49G>T (GMPR2)	ENSP00000452670.1:n.*620-49G>T
ENST00000620807.4:c.698-49G>T (GMPR2)	ENSP00000480342.1:n.698-49G>T
NM_001002000.2:c.698-49G>T (GMPR2)	NP_001002000.1:n.698-49G>T
NM_001002001.2:c.698-49G>T (GMPR2)	NP_001002001.1:n.698-49G>T
NM_001002002.2:c.698-49G>T (GMPR2)	NP_001002002.1:n.698-49G>T
NM_001283021.1:c.590-49G>T (GMPR2)	NP_001269950.1:n.590-49G>T
NM_001283022.1:c.752-49G>T (GMPR2)	NP_001269951.1:n.752-49G>T
NM_001283023.1:c.614-49G>T (GMPR2)	NP_001269952.1:n.614-49G>T
NM_016576.4:c.752-49G>T (GMPR2)	NP_057660.2:n.752-49G>T
NR_104265.1:n.1183-49G>T (GMPR2)
XM_005267528.2:c.1221+1867C>A (TINF2)	XP_005267585.1:n.1221+1867C>A
XM_005267740.3:c.698-49G>T (GMPR2)	XP_005267797.1:n.698-49G>T
XM_005267741.3:c.698-49G>T (GMPR2)	XP_005267798.1:n.698-49G>T
XM_005267742.2:c.698-49G>T (GMPR2)	XP_005267799.1:n.698-49G>T
XM_006720165.2:c.590-49G>T (GMPR2)	XP_006720228.1:n.590-49G>T
NM_001351022.1:c.698-49G>T (GMPR2)	NP_001337951.1:n.698-49G>T
NM_001351023.1:c.698-49G>T (GMPR2)	NP_001337952.1:n.698-49G>T
NM_001351024.1:c.590-49G>T (GMPR2)	NP_001337953.1:n.590-49G>T
NM_001351025.1:c.590-49G>T (GMPR2)	NP_001337954.1:n.590-49G>T
NM_001351026.1:c.590-49G>T (GMPR2)	NP_001337955.1:n.590-49G>T
XM_005267742.3:c.698-49G>T (GMPR2)	XP_005267799.1:n.698-49G>T
XM_017021356.1:c.590-49G>T (GMPR2)	XP_016876845.1:n.590-49G>T
XM_017021360.1:c.209-49G>T (GMPR2)	XP_016876849.1:n.209-49G>T
NM_001002000.3:c.698-49G>T (GMPR2)	NP_001002000.1:n.698-49G>T
NM_001002001.3:c.698-49G>T (GMPR2)	NP_001002001.1:n.698-49G>T
NM_001002002.3:c.698-49G>T (GMPR2) MANE Select	NP_001002002.1:n.698-49G>T
NM_001283021.2:c.590-49G>T (GMPR2)	NP_001269950.1:n.590-49G>T
NM_001283022.2:c.752-49G>T (GMPR2)	NP_001269951.1:n.752-49G>T
NM_001283023.2:c.614-49G>T (GMPR2)	NP_001269952.1:n.614-49G>T
NM_001351022.2:c.698-49G>T (GMPR2)	NP_001337951.1:n.698-49G>T
NM_001351023.2:c.698-49G>T (GMPR2)	NP_001337952.1:n.698-49G>T
NM_001351024.2:c.590-49G>T (GMPR2)	NP_001337953.1:n.590-49G>T
NM_001351025.2:c.590-49G>T (GMPR2)	NP_001337954.1:n.590-49G>T
NM_001351026.2:c.590-49G>T (GMPR2)	NP_001337955.1:n.590-49G>T
NM_016576.5:c.752-49G>T (GMPR2)	NP_057660.2:n.752-49G>T
NR_104265.2:n.983-49G>T (GMPR2)