Canonical Allele Identifier: CA1917151

Gene: GPD2

Linked Data

• dbSNP Id: rs754799404
• ExAC: 2:157435666 G / A
• gnomAD v2: 2-157435666-G-A
• gnomAD v3: 2-156579154-G-A
• gnomAD v4: 2-156579154-G-A
• MyVariant Identifiers: chr2:g.157435666G>A (hg19) ; chr2:g.156579154G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438166.7:c.1949G>A MANE Select	ENSP00000409708.2:p.Arg650His
ENST00000310454.10:c.1949G>A	ENSP00000308610.5:p.Arg650His
ENST00000409125.8:c.1571G>A	ENSP00000386484.5:p.Arg524His
ENST00000409674.5:c.1949G>A	ENSP00000386425.1:p.Arg650His
ENST00000409861.5:c.1949G>A	ENSP00000386626.1:p.Arg650His
ENST00000438166.6:c.1949G>A	ENSP00000409708.2:p.Arg650His
ENST00000464846.5:n.387G>A
ENST00000492005.1:n.72G>A
ENST00000540309.5:c.*63G>A	ENSP00000440892.1:n.*63G>A
NM_000408.4:c.1949G>A	NP_000399.3:p.Arg650His
NM_001083112.2:c.1949G>A	NP_001076581.2:p.Arg650His
XM_005246469.1:c.1949G>A	XP_005246526.1:p.Arg650His
XM_005246470.3:c.1847G>A	XP_005246527.1:p.Arg616His
XM_011510977.1:c.1949G>A	XP_011509279.1:p.Arg650His
XM_011510978.1:c.1847G>A	XP_011509280.1:p.Arg616His
XM_011510979.1:c.1571G>A	XP_011509281.1:p.Arg524His
XM_011510980.1:c.1268G>A	XP_011509282.1:p.Arg423His
XM_005246469.2:c.1949G>A	XP_005246526.1:p.Arg650His
XM_011510977.2:c.1949G>A	XP_011509279.1:p.Arg650His
XM_011510978.2:c.1847G>A	XP_011509280.1:p.Arg616His
XM_017003830.1:c.1949G>A	XP_016859319.1:p.Arg650His
XM_024452798.1:c.1949G>A	XP_024308566.1:p.Arg650His
NM_000408.5:c.1949G>A MANE Select	NP_000399.3:p.Arg650His
NM_001083112.3:c.1949G>A	NP_001076581.2:p.Arg650His