Canonical Allele Identifier: CA348664115

Gene: GPD2

Linked Data

• MyVariant Identifiers: chr2:g.157435425T>A (hg19) ; chr2:g.156578913T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438166.7:c.1792T>A MANE Select	ENSP00000409708.2:p.Phe598Ile
ENST00000310454.10:c.1792T>A	ENSP00000308610.5:p.Phe598Ile
ENST00000409125.8:c.1414T>A	ENSP00000386484.5:p.Phe472Ile
ENST00000409674.5:c.1792T>A	ENSP00000386425.1:p.Phe598Ile
ENST00000409861.5:c.1792T>A	ENSP00000386626.1:p.Phe598Ile
ENST00000438166.6:c.1792T>A	ENSP00000409708.2:p.Phe598Ile
ENST00000464846.5:n.146T>A
ENST00000540309.5:c.1135-173T>A	ENSP00000440892.1:n.1135-173T>A
NM_000408.4:c.1792T>A	NP_000399.3:p.Phe598Ile
NM_001083112.2:c.1792T>A	NP_001076581.2:p.Phe598Ile
XM_005246469.1:c.1792T>A	XP_005246526.1:p.Phe598Ile
XM_005246470.3:c.1690T>A	XP_005246527.1:p.Phe564Ile
XM_011510977.1:c.1792T>A	XP_011509279.1:p.Phe598Ile
XM_011510978.1:c.1690T>A	XP_011509280.1:p.Phe564Ile
XM_011510979.1:c.1414T>A	XP_011509281.1:p.Phe472Ile
XM_011510980.1:c.1111T>A	XP_011509282.1:p.Phe371Ile
XM_005246469.2:c.1792T>A	XP_005246526.1:p.Phe598Ile
XM_011510977.2:c.1792T>A	XP_011509279.1:p.Phe598Ile
XM_011510978.2:c.1690T>A	XP_011509280.1:p.Phe564Ile
XM_017003830.1:c.1792T>A	XP_016859319.1:p.Phe598Ile
XM_024452798.1:c.1792T>A	XP_024308566.1:p.Phe598Ile
NM_000408.5:c.1792T>A MANE Select	NP_000399.3:p.Phe598Ile
NM_001083112.3:c.1792T>A	NP_001076581.2:p.Phe598Ile