Canonical Allele Identifier: CA1917113
Gene: GPD2 HGNC NCBI

Linked Data

dbSNP Id: rs781757638

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.156578985C>T , CM000664.2:g.156578985C>T GRCh38
NC_000002.11:g.157435497C>T , CM000664.1:g.157435497C>T GRCh37
NC_000002.10:g.157143743C>T NCBI36
NG_016606.1:g.148533C>T
NG_016606.2:g.148533C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000438166.7:c.1864C>T MANE Select ENSP00000409708.2:p.Pro622Ser
ENST00000310454.10:c.1864C>T ENSP00000308610.5:p.Pro622Ser
ENST00000409125.8:c.1486C>T ENSP00000386484.5:p.Pro496Ser
ENST00000409674.5:c.1864C>T ENSP00000386425.1:p.Pro622Ser
ENST00000409861.5:c.1864C>T ENSP00000386626.1:p.Pro622Ser
ENST00000438166.6:c.1864C>T ENSP00000409708.2:p.Pro622Ser
ENST00000464846.5:n.218C>T
ENST00000540309.5:c.1135-101C>T ENSP00000440892.1:n.1135-101C>T
NM_000408.4:c.1864C>T NP_000399.3:p.Pro622Ser
NM_001083112.2:c.1864C>T NP_001076581.2:p.Pro622Ser
XM_005246469.1:c.1864C>T XP_005246526.1:p.Pro622Ser
XM_005246470.3:c.1762C>T XP_005246527.1:p.Pro588Ser
XM_011510977.1:c.1864C>T XP_011509279.1:p.Pro622Ser
XM_011510978.1:c.1762C>T XP_011509280.1:p.Pro588Ser
XM_011510979.1:c.1486C>T XP_011509281.1:p.Pro496Ser
XM_011510980.1:c.1183C>T XP_011509282.1:p.Pro395Ser
XM_005246469.2:c.1864C>T XP_005246526.1:p.Pro622Ser
XM_011510977.2:c.1864C>T XP_011509279.1:p.Pro622Ser
XM_011510978.2:c.1762C>T XP_011509280.1:p.Pro588Ser
XM_017003830.1:c.1864C>T XP_016859319.1:p.Pro622Ser
XM_024452798.1:c.1864C>T XP_024308566.1:p.Pro622Ser
NM_000408.5:c.1864C>T MANE Select NP_000399.3:p.Pro622Ser
NM_001083112.3:c.1864C>T NP_001076581.2:p.Pro622Ser