Canonical Allele Identifier: CA454611692

Gene: PGAM2 DBNL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44064923G>A , CM000669.2:g.44064923G>A	GRCh38
NC_000007.13:g.44104522G>A , CM000669.1:g.44104522G>A	GRCh37
NC_000007.12:g.44071047G>A	NCBI36
NG_013016.1:g.5665C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000290.4:c.504C>T (PGAM2) MANE Select	NP_000281.2:p.Asn168=
NM_001014436.3:c.*4007G>A (DBNL) MANE Select	NP_001014436.1:n.*4007G>A
ENST00000297283.4:c.504C>T (PGAM2) MANE Select	ENSP00000297283.3:p.Asn168=
ENST00000448521.6:c.*4007G>A (DBNL) MANE Select	ENSP00000411701.1:n.*4007G>A
NM_000290.3:c.504C>T (PGAM2)	NP_000281.2:p.Asn168=
NM_001122956.2:c.*4007G>A (DBNL)	NP_001116428.1:n.*4007G>A
NM_001284313.2:c.*4007G>A (DBNL)	NP_001271242.1:n.*4007G>A
NM_001284315.2:c.*4007G>A (DBNL)	NP_001271244.1:n.*4007G>A
NM_001362723.2:c.*4007G>A (DBNL)	NP_001349652.1:n.*4007G>A
NM_014063.7:c.*4007G>A (DBNL)	NP_054782.2:n.*4007G>A
ENST00000297283.3:c.504C>T (PGAM2)	ENSP00000297283.3:p.Asn168=
ENST00000432854.5:c.5085G>A (DBNL)
XM_011515426.1:c.414+193C>T (PGAM2)	XP_011513728.1:n.414+193C>T