Canonical Allele Identifier: CA4236598

Gene: PGAM2 DBNL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44065149G>A , CM000669.2:g.44065149G>A	GRCh38
NC_000007.13:g.44104748G>A , CM000669.1:g.44104748G>A	GRCh37
NC_000007.12:g.44071273G>A	NCBI36
NG_013016.1:g.5439C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297283.4:c.381C>T (PGAM2) MANE Select	ENSP00000297283.3:p.Asp127=
ENST00000448521.6:c.*4233G>A (DBNL) MANE Select	ENSP00000411701.1:n.*4233G>A
ENST00000297283.3:c.381C>T (PGAM2)	ENSP00000297283.3:p.Asp127=
ENST00000432854.5:c.5311G>A (DBNL)
NM_000290.3:c.381C>T (PGAM2)	NP_000281.2:p.Asp127=
XM_011515426.1:c.381C>T (PGAM2)	XP_011513728.1:p.Asp127=
NM_000290.4:c.381C>T (PGAM2) MANE Select	NP_000281.2:p.Asp127=
NM_001014436.3:c.*4233G>A (DBNL) MANE Select	NP_001014436.1:n.*4233G>A
NM_001122956.2:c.*4233G>A (DBNL)	NP_001116428.1:n.*4233G>A
NM_001284313.2:c.*4233G>A (DBNL)	NP_001271242.1:n.*4233G>A
NM_001362723.2:c.*4233G>A (DBNL)	NP_001349652.1:n.*4233G>A
NM_014063.7:c.*4233G>A (DBNL)	NP_054782.2:n.*4233G>A
NM_001284315.2:c.*4233G>A (DBNL)	NP_001271244.1:n.*4233G>A