Canonical Allele Identifier: CA1917099
Gene: GPD2 HGNC NCBI

Linked Data

dbSNP Id: rs773521684

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.156578913T>C , CM000664.2:g.156578913T>C GRCh38
NC_000002.11:g.157435425T>C , CM000664.1:g.157435425T>C GRCh37
NC_000002.10:g.157143671T>C NCBI36
NG_016606.1:g.148461T>C
NG_016606.2:g.148461T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000438166.7:c.1792T>C MANE Select ENSP00000409708.2:p.Phe598Leu
ENST00000310454.10:c.1792T>C ENSP00000308610.5:p.Phe598Leu
ENST00000409125.8:c.1414T>C ENSP00000386484.5:p.Phe472Leu
ENST00000409674.5:c.1792T>C ENSP00000386425.1:p.Phe598Leu
ENST00000409861.5:c.1792T>C ENSP00000386626.1:p.Phe598Leu
ENST00000438166.6:c.1792T>C ENSP00000409708.2:p.Phe598Leu
ENST00000464846.5:n.146T>C
ENST00000540309.5:c.1135-173T>C ENSP00000440892.1:n.1135-173T>C
NM_000408.4:c.1792T>C NP_000399.3:p.Phe598Leu
NM_001083112.2:c.1792T>C NP_001076581.2:p.Phe598Leu
XM_005246469.1:c.1792T>C XP_005246526.1:p.Phe598Leu
XM_005246470.3:c.1690T>C XP_005246527.1:p.Phe564Leu
XM_011510977.1:c.1792T>C XP_011509279.1:p.Phe598Leu
XM_011510978.1:c.1690T>C XP_011509280.1:p.Phe564Leu
XM_011510979.1:c.1414T>C XP_011509281.1:p.Phe472Leu
XM_011510980.1:c.1111T>C XP_011509282.1:p.Phe371Leu
XM_005246469.2:c.1792T>C XP_005246526.1:p.Phe598Leu
XM_011510977.2:c.1792T>C XP_011509279.1:p.Phe598Leu
XM_011510978.2:c.1690T>C XP_011509280.1:p.Phe564Leu
XM_017003830.1:c.1792T>C XP_016859319.1:p.Phe598Leu
XM_024452798.1:c.1792T>C XP_024308566.1:p.Phe598Leu
NM_000408.5:c.1792T>C MANE Select NP_000399.3:p.Phe598Leu
NM_001083112.3:c.1792T>C NP_001076581.2:p.Phe598Leu