Canonical Allele Identifier: CA348664959
Gene: GPD2 HGNC NCBI

Linked Data

dbSNP Id: rs754799404

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.156579154G>T , CM000664.2:g.156579154G>T GRCh38
NC_000002.11:g.157435666G>T , CM000664.1:g.157435666G>T GRCh37
NC_000002.10:g.157143912G>T NCBI36
NG_016606.1:g.148702G>T
NG_016606.2:g.148702G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000438166.7:c.1949G>T MANE Select ENSP00000409708.2:p.Arg650Leu
ENST00000310454.10:c.1949G>T ENSP00000308610.5:p.Arg650Leu
ENST00000409125.8:c.1571G>T ENSP00000386484.5:p.Arg524Leu
ENST00000409674.5:c.1949G>T ENSP00000386425.1:p.Arg650Leu
ENST00000409861.5:c.1949G>T ENSP00000386626.1:p.Arg650Leu
ENST00000438166.6:c.1949G>T ENSP00000409708.2:p.Arg650Leu
ENST00000464846.5:n.387G>T
ENST00000492005.1:n.72G>T
ENST00000540309.5:c.*63G>T ENSP00000440892.1:n.*63G>T
NM_000408.4:c.1949G>T NP_000399.3:p.Arg650Leu
NM_001083112.2:c.1949G>T NP_001076581.2:p.Arg650Leu
XM_005246469.1:c.1949G>T XP_005246526.1:p.Arg650Leu
XM_005246470.3:c.1847G>T XP_005246527.1:p.Arg616Leu
XM_011510977.1:c.1949G>T XP_011509279.1:p.Arg650Leu
XM_011510978.1:c.1847G>T XP_011509280.1:p.Arg616Leu
XM_011510979.1:c.1571G>T XP_011509281.1:p.Arg524Leu
XM_011510980.1:c.1268G>T XP_011509282.1:p.Arg423Leu
XM_005246469.2:c.1949G>T XP_005246526.1:p.Arg650Leu
XM_011510977.2:c.1949G>T XP_011509279.1:p.Arg650Leu
XM_011510978.2:c.1847G>T XP_011509280.1:p.Arg616Leu
XM_017003830.1:c.1949G>T XP_016859319.1:p.Arg650Leu
XM_024452798.1:c.1949G>T XP_024308566.1:p.Arg650Leu
NM_000408.5:c.1949G>T MANE Select NP_000399.3:p.Arg650Leu
NM_001083112.3:c.1949G>T NP_001076581.2:p.Arg650Leu