Canonical Allele Identifier: CA525266561

Gene: GPSM2 AKNAD1

Linked Data

• dbSNP Id: rs938750205
• gnomAD v2: 1-109419638-C-G
• gnomAD v3: 1-108877016-C-G
• gnomAD v4: 1-108877016-C-G
• MyVariant Identifiers: chr1:g.109419638C>G (hg19) ; chr1:g.108877016C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.108877016C>G , CM000663.2:g.108877016C>G	GRCh38
NC_000001.10:g.109419638C>G , CM000663.1:g.109419638C>G	GRCh37
NC_000001.9:g.109221161C>G	NCBI36
NG_028108.1:g.5036C>G
NG_028108.2:g.6667C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264126.9:c.-461C>G (GPSM2) MANE Select	ENSP00000264126.3:n.-461C>G
ENST00000357393.6:c.1-27440G>C (AKNAD1)	ENSP00000349968.6:n.1-27440G>C
ENST00000441735.2:c.-379C>G (GPSM2)	ENSP00000390629.2:n.-379C>G
ENST00000642355.1:c.-461C>G (GPSM2)	ENSP00000496104.1:n.-461C>G
ENST00000643094.1:c.-507C>G (GPSM2)	ENSP00000495317.1:n.-507C>G
ENST00000645164.2:c.-275C>G (GPSM2)	ENSP00000496756.2:n.-275C>G
ENST00000674700.1:c.-214C>G (GPSM2)	ENSP00000501743.1:n.-214C>G
ENST00000674731.1:c.-214C>G (GPSM2)	ENSP00000502401.1:n.-214C>G
ENST00000674914.1:c.-272C>G (GPSM2)	ENSP00000501579.1:n.-272C>G
ENST00000675776.1:n.35C>G (GPSM2)
ENST00000675829.1:n.57C>G (GPSM2)
ENST00000676404.1:c.-214C>G (GPSM2)	ENSP00000502346.1:n.-214C>G
ENST00000264126.7:c.-461C>G (GPSM2)	ENSP00000264126.3:n.-461C>G
ENST00000357393.5:c.115-27440G>C	ENSP00000349968.5:n.115-27440G>C
ENST00000406462.6:c.-461C>G (GPSM2)	ENSP00000385510.1:n.-461C>G
ENST00000435987.5:c.-229C>G (GPSM2)	ENSP00000408664.1:n.-229C>G
NM_013296.4:c.-461C>G (GPSM2)	NP_037428.3:n.-461C>G
XM_005270787.2:c.-229C>G (GPSM2)	XP_005270844.1:n.-229C>G
XM_006710589.1:c.-214C>G (GPSM2)	XP_006710652.1:n.-214C>G
XM_011541301.1:c.-461C>G (GPSM2)	XP_011539603.1:n.-461C>G
XM_011541303.1:c.-461C>G (GPSM2)	XP_011539605.1:n.-461C>G
NM_001321038.1:c.-229C>G (GPSM2)	NP_001307967.1:n.-229C>G
NM_001321039.1:c.-461C>G (GPSM2)	NP_001307968.1:n.-461C>G
XM_006710589.3:c.-214C>G (GPSM2)	XP_006710652.1:n.-214C>G
XM_011541301.2:c.-461C>G (GPSM2)	XP_011539603.1:n.-461C>G
XM_011541302.3:c.-705C>G (GPSM2)	XP_011539604.1:n.-705C>G
XM_011541303.3:c.-461C>G (GPSM2)	XP_011539605.1:n.-461C>G
XM_017001097.2:c.-611C>G (GPSM2)	XP_016856586.1:n.-611C>G
XM_017001098.2:c.-379C>G (GPSM2)	XP_016856587.1:n.-379C>G
NM_013296.5:c.-461C>G (GPSM2) MANE Select	NP_037428.3:n.-461C>G
NM_001321038.2:c.-229C>G (GPSM2)	NP_001307967.1:n.-229C>G
NM_001321039.2:c.-461C>G (GPSM2)	NP_001307968.1:n.-461C>G
NM_001321039.3:c.-461C>G (GPSM2)	NP_001307968.1:n.-461C>G