Canonical Allele Identifier: CA348664968
Gene: GPD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.156579159T>A , CM000664.2:g.156579159T>A GRCh38
NC_000002.11:g.157435671T>A , CM000664.1:g.157435671T>A GRCh37
NC_000002.10:g.157143917T>A NCBI36
NG_016606.1:g.148707T>A
NG_016606.2:g.148707T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000438166.7:c.1954T>A MANE Select ENSP00000409708.2:p.Leu652Ile
ENST00000310454.10:c.1954T>A ENSP00000308610.5:p.Leu652Ile
ENST00000409125.8:c.1576T>A ENSP00000386484.5:p.Leu526Ile
ENST00000409674.5:c.1954T>A ENSP00000386425.1:p.Leu652Ile
ENST00000409861.5:c.1954T>A ENSP00000386626.1:p.Leu652Ile
ENST00000438166.6:c.1954T>A ENSP00000409708.2:p.Leu652Ile
ENST00000464846.5:n.392T>A
ENST00000492005.1:n.77T>A
ENST00000540309.5:c.*68T>A ENSP00000440892.1:n.*68T>A
NM_000408.4:c.1954T>A NP_000399.3:p.Leu652Ile
NM_001083112.2:c.1954T>A NP_001076581.2:p.Leu652Ile
XM_005246469.1:c.1954T>A XP_005246526.1:p.Leu652Ile
XM_005246470.3:c.1852T>A XP_005246527.1:p.Leu618Ile
XM_011510977.1:c.1954T>A XP_011509279.1:p.Leu652Ile
XM_011510978.1:c.1852T>A XP_011509280.1:p.Leu618Ile
XM_011510979.1:c.1576T>A XP_011509281.1:p.Leu526Ile
XM_011510980.1:c.1273T>A XP_011509282.1:p.Leu425Ile
XM_005246469.2:c.1954T>A XP_005246526.1:p.Leu652Ile
XM_011510977.2:c.1954T>A XP_011509279.1:p.Leu652Ile
XM_011510978.2:c.1852T>A XP_011509280.1:p.Leu618Ile
XM_017003830.1:c.1954T>A XP_016859319.1:p.Leu652Ile
XM_024452798.1:c.1954T>A XP_024308566.1:p.Leu652Ile
NM_000408.5:c.1954T>A MANE Select NP_000399.3:p.Leu652Ile
NM_001083112.3:c.1954T>A NP_001076581.2:p.Leu652Ile