Canonical Allele Identifier: CA2682589775

Linked Data

gnomAD v4: 7-44062749-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44062749G>T , CM000669.2:g.44062749G>T GRCh38
NC_000007.13:g.44102348G>T , CM000669.1:g.44102348G>T GRCh37
NC_000007.12:g.44068873G>T NCBI36
NG_013016.1:g.7839C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000297283.4:c.*15C>A (PGAM2) MANE Select ENSP00000297283.3:n.*15C>A
ENST00000448521.6:c.*1833G>T (DBNL) MANE Select ENSP00000411701.1:n.*1833G>T
ENST00000297283.3:c.*15C>A (PGAM2) ENSP00000297283.3:n.*15C>A
ENST00000432854.5:c.2911G>T (DBNL)
NM_000290.3:c.*15C>A (PGAM2) NP_000281.2:n.*15C>A
NM_000290.4:c.*15C>A (PGAM2) MANE Select NP_000281.2:n.*15C>A
NM_001014436.3:c.*1833G>T (DBNL) MANE Select NP_001014436.1:n.*1833G>T
NM_001122956.2:c.*1833G>T (DBNL) NP_001116428.1:n.*1833G>T
NM_001284313.2:c.*1833G>T (DBNL) NP_001271242.1:n.*1833G>T
NM_001362723.2:c.*1833G>T (DBNL) NP_001349652.1:n.*1833G>T
NM_014063.7:c.*1833G>T (DBNL) NP_054782.2:n.*1833G>T
NM_001284315.2:c.*1833G>T (DBNL) NP_001271244.1:n.*1833G>T