Canonical Allele Identifier: CA429472418
Gene: GPD2 HGNC NCBI

Linked Data

dbSNP Id: rs1222941160
MyVariant Identifiers: chr2:g.157435412A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.156578900A>G , CM000664.2:g.156578900A>G GRCh38
NC_000002.11:g.157435412A>G , CM000664.1:g.157435412A>G GRCh37
NC_000002.10:g.157143658A>G NCBI36
NG_016606.1:g.148448A>G
NG_016606.2:g.148448A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000438166.7:c.1779A>G MANE Select ENSP00000409708.2:p.Glu593=
ENST00000310454.10:c.1779A>G ENSP00000308610.5:p.Glu593=
ENST00000409125.8:c.1401A>G ENSP00000386484.5:p.Glu467=
ENST00000409674.5:c.1779A>G ENSP00000386425.1:p.Glu593=
ENST00000409861.5:c.1779A>G ENSP00000386626.1:p.Glu593=
ENST00000438166.6:c.1779A>G ENSP00000409708.2:p.Glu593=
ENST00000464846.5:n.133A>G
ENST00000540309.5:c.1135-186A>G ENSP00000440892.1:n.1135-186A>G
NM_000408.4:c.1779A>G NP_000399.3:p.Glu593=
NM_001083112.2:c.1779A>G NP_001076581.2:p.Glu593=
XM_005246469.1:c.1779A>G XP_005246526.1:p.Glu593=
XM_005246470.3:c.1677A>G XP_005246527.1:p.Glu559=
XM_011510977.1:c.1779A>G XP_011509279.1:p.Glu593=
XM_011510978.1:c.1677A>G XP_011509280.1:p.Glu559=
XM_011510979.1:c.1401A>G XP_011509281.1:p.Glu467=
XM_011510980.1:c.1098A>G XP_011509282.1:p.Glu366=
XM_005246469.2:c.1779A>G XP_005246526.1:p.Glu593=
XM_011510977.2:c.1779A>G XP_011509279.1:p.Glu593=
XM_011510978.2:c.1677A>G XP_011509280.1:p.Glu559=
XM_017003830.1:c.1779A>G XP_016859319.1:p.Glu593=
XM_024452798.1:c.1779A>G XP_024308566.1:p.Glu593=
NM_000408.5:c.1779A>G MANE Select NP_000399.3:p.Glu593=
NM_001083112.3:c.1779A>G NP_001076581.2:p.Glu593=