Canonical Allele Identifier: CA4236702

Gene: PGAM2 DBNL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44065516C>T , CM000669.2:g.44065516C>T	GRCh38
NC_000007.13:g.44105115C>T , CM000669.1:g.44105115C>T	GRCh37
NC_000007.12:g.44071640C>T	NCBI36
NG_013016.1:g.5072G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297283.4:c.14G>A (PGAM2) MANE Select	ENSP00000297283.3:p.Arg5His
ENST00000448521.6:c.*4600C>T (DBNL) MANE Select	ENSP00000411701.1:n.*4600C>T
ENST00000297283.3:c.14G>A (PGAM2)	ENSP00000297283.3:p.Arg5His
ENST00000432854.5:c.5678C>T (DBNL)
NM_000290.3:c.14G>A (PGAM2)	NP_000281.2:p.Arg5His
XM_011515426.1:c.14G>A (PGAM2)	XP_011513728.1:p.Arg5His
XR_927214.1:n.89C>T
XR_927215.1:n.88C>T
XR_927216.1:n.89C>T
XR_927217.1:n.89C>T
XR_927218.1:n.89C>T
NM_000290.4:c.14G>A (PGAM2) MANE Select	NP_000281.2:p.Arg5His
NM_001014436.3:c.*4600C>T (DBNL) MANE Select	NP_001014436.1:n.*4600C>T
NM_001122956.2:c.*4600C>T (DBNL)	NP_001116428.1:n.*4600C>T
NM_001284313.2:c.*4600C>T (DBNL)	NP_001271242.1:n.*4600C>T
NM_001362723.2:c.*4600C>T (DBNL)	NP_001349652.1:n.*4600C>T
NM_014063.7:c.*4600C>T (DBNL)	NP_054782.2:n.*4600C>T
NM_001284315.2:c.*4600C>T (DBNL)	NP_001271244.1:n.*4600C>T