Canonical Allele Identifier: CA348664380
Gene: GPD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.156578980T>C , CM000664.2:g.156578980T>C GRCh38
NC_000002.11:g.157435492T>C , CM000664.1:g.157435492T>C GRCh37
NC_000002.10:g.157143738T>C NCBI36
NG_016606.1:g.148528T>C
NG_016606.2:g.148528T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000438166.7:c.1859T>C MANE Select ENSP00000409708.2:p.Leu620Pro
ENST00000310454.10:c.1859T>C ENSP00000308610.5:p.Leu620Pro
ENST00000409125.8:c.1481T>C ENSP00000386484.5:p.Leu494Pro
ENST00000409674.5:c.1859T>C ENSP00000386425.1:p.Leu620Pro
ENST00000409861.5:c.1859T>C ENSP00000386626.1:p.Leu620Pro
ENST00000438166.6:c.1859T>C ENSP00000409708.2:p.Leu620Pro
ENST00000464846.5:n.213T>C
ENST00000540309.5:c.1135-106T>C ENSP00000440892.1:n.1135-106T>C
NM_000408.4:c.1859T>C NP_000399.3:p.Leu620Pro
NM_001083112.2:c.1859T>C NP_001076581.2:p.Leu620Pro
XM_005246469.1:c.1859T>C XP_005246526.1:p.Leu620Pro
XM_005246470.3:c.1757T>C XP_005246527.1:p.Leu586Pro
XM_011510977.1:c.1859T>C XP_011509279.1:p.Leu620Pro
XM_011510978.1:c.1757T>C XP_011509280.1:p.Leu586Pro
XM_011510979.1:c.1481T>C XP_011509281.1:p.Leu494Pro
XM_011510980.1:c.1178T>C XP_011509282.1:p.Leu393Pro
XM_005246469.2:c.1859T>C XP_005246526.1:p.Leu620Pro
XM_011510977.2:c.1859T>C XP_011509279.1:p.Leu620Pro
XM_011510978.2:c.1757T>C XP_011509280.1:p.Leu586Pro
XM_017003830.1:c.1859T>C XP_016859319.1:p.Leu620Pro
XM_024452798.1:c.1859T>C XP_024308566.1:p.Leu620Pro
NM_000408.5:c.1859T>C MANE Select NP_000399.3:p.Leu620Pro
NM_001083112.3:c.1859T>C NP_001076581.2:p.Leu620Pro