Canonical Allele Identifier: CA348664015
Gene: GPD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.156578893A>T , CM000664.2:g.156578893A>T GRCh38
NC_000002.11:g.157435405A>T , CM000664.1:g.157435405A>T GRCh37
NC_000002.10:g.157143651A>T NCBI36
NG_016606.1:g.148441A>T
NG_016606.2:g.148441A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000438166.7:c.1772A>T MANE Select ENSP00000409708.2:p.Gln591Leu
ENST00000310454.10:c.1772A>T ENSP00000308610.5:p.Gln591Leu
ENST00000409125.8:c.1394A>T ENSP00000386484.5:p.Gln465Leu
ENST00000409674.5:c.1772A>T ENSP00000386425.1:p.Gln591Leu
ENST00000409861.5:c.1772A>T ENSP00000386626.1:p.Gln591Leu
ENST00000438166.6:c.1772A>T ENSP00000409708.2:p.Gln591Leu
ENST00000464846.5:n.126A>T
ENST00000540309.5:c.1135-193A>T ENSP00000440892.1:n.1135-193A>T
NM_000408.4:c.1772A>T NP_000399.3:p.Gln591Leu
NM_001083112.2:c.1772A>T NP_001076581.2:p.Gln591Leu
XM_005246469.1:c.1772A>T XP_005246526.1:p.Gln591Leu
XM_005246470.3:c.1670A>T XP_005246527.1:p.Gln557Leu
XM_011510977.1:c.1772A>T XP_011509279.1:p.Gln591Leu
XM_011510978.1:c.1670A>T XP_011509280.1:p.Gln557Leu
XM_011510979.1:c.1394A>T XP_011509281.1:p.Gln465Leu
XM_011510980.1:c.1091A>T XP_011509282.1:p.Gln364Leu
XM_005246469.2:c.1772A>T XP_005246526.1:p.Gln591Leu
XM_011510977.2:c.1772A>T XP_011509279.1:p.Gln591Leu
XM_011510978.2:c.1670A>T XP_011509280.1:p.Gln557Leu
XM_017003830.1:c.1772A>T XP_016859319.1:p.Gln591Leu
XM_024452798.1:c.1772A>T XP_024308566.1:p.Gln591Leu
NM_000408.5:c.1772A>T MANE Select NP_000399.3:p.Gln591Leu
NM_001083112.3:c.1772A>T NP_001076581.2:p.Gln591Leu