Canonical Allele Identifier: CA2744980670
Gene: GPSM2 HGNC NCBI
AKNAD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.108877006A>C , CM000663.2:g.108877006A>C GRCh38
NC_000001.10:g.109419628A>C , CM000663.1:g.109419628A>C GRCh37
NC_000001.9:g.109221151A>C NCBI36
NG_028108.1:g.5026A>C
NG_028108.2:g.6657A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264126.9:c.-471A>C (GPSM2) MANE Select ENSP00000264126.3:n.-471A>C
ENST00000357393.6:c.1-27430T>G (AKNAD1) ENSP00000349968.6:n.1-27430T>G
ENST00000441735.2:c.-389A>C (GPSM2) ENSP00000390629.2:n.-389A>C
ENST00000642355.1:c.-471A>C (GPSM2) ENSP00000496104.1:n.-471A>C
ENST00000643094.1:c.-517A>C (GPSM2) ENSP00000495317.1:n.-517A>C
ENST00000645164.2:c.-285A>C (GPSM2) ENSP00000496756.2:n.-285A>C
ENST00000674700.1:c.-224A>C (GPSM2) ENSP00000501743.1:n.-224A>C
ENST00000674731.1:c.-224A>C (GPSM2) ENSP00000502401.1:n.-224A>C
ENST00000674914.1:c.-282A>C (GPSM2) ENSP00000501579.1:n.-282A>C
ENST00000675776.1:n.25A>C (GPSM2)
ENST00000675829.1:n.47A>C (GPSM2)
ENST00000676404.1:c.-224A>C (GPSM2) ENSP00000502346.1:n.-224A>C
ENST00000264126.7:c.-471A>C (GPSM2) ENSP00000264126.3:n.-471A>C
ENST00000357393.5:c.115-27430T>G ENSP00000349968.5:n.115-27430T>G
ENST00000406462.6:c.-471A>C (GPSM2) ENSP00000385510.1:n.-471A>C
ENST00000435987.5:c.-239A>C (GPSM2) ENSP00000408664.1:n.-239A>C
NM_013296.4:c.-471A>C (GPSM2) NP_037428.3:n.-471A>C
XM_005270787.2:c.-239A>C (GPSM2) XP_005270844.1:n.-239A>C
XM_006710589.1:c.-224A>C (GPSM2) XP_006710652.1:n.-224A>C
XM_011541301.1:c.-471A>C (GPSM2) XP_011539603.1:n.-471A>C
XM_011541303.1:c.-471A>C (GPSM2) XP_011539605.1:n.-471A>C
NM_001321038.1:c.-239A>C (GPSM2) NP_001307967.1:n.-239A>C
NM_001321039.1:c.-471A>C (GPSM2) NP_001307968.1:n.-471A>C
XM_006710589.3:c.-224A>C (GPSM2) XP_006710652.1:n.-224A>C
XM_011541301.2:c.-471A>C (GPSM2) XP_011539603.1:n.-471A>C
XM_011541302.3:c.-715A>C (GPSM2) XP_011539604.1:n.-715A>C
XM_011541303.3:c.-471A>C (GPSM2) XP_011539605.1:n.-471A>C
XM_017001097.2:c.-621A>C (GPSM2) XP_016856586.1:n.-621A>C
XM_017001098.2:c.-389A>C (GPSM2) XP_016856587.1:n.-389A>C
NM_013296.5:c.-471A>C (GPSM2) MANE Select NP_037428.3:n.-471A>C
NM_001321038.2:c.-239A>C (GPSM2) NP_001307967.1:n.-239A>C
NM_001321039.2:c.-471A>C (GPSM2) NP_001307968.1:n.-471A>C
NM_001321039.3:c.-471A>C (GPSM2) NP_001307968.1:n.-471A>C