Canonical Allele Identifier: CA348664731

Gene: GPD2

Linked Data

• dbSNP Id: rs121918407
• MyVariant Identifiers: chr2:g.157435621T>A (hg19) ; chr2:g.156579109T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.156579109T>A , CM000664.2:g.156579109T>A	GRCh38
NC_000002.11:g.157435621T>A , CM000664.1:g.157435621T>A	GRCh37
NC_000002.10:g.157143867T>A	NCBI36
NG_016606.1:g.148657T>A
NG_016606.2:g.148657T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000438166.7:c.1904T>A MANE Select	ENSP00000409708.2:p.Phe635Tyr
ENST00000310454.10:c.1904T>A	ENSP00000308610.5:p.Phe635Tyr
ENST00000409125.8:c.1526T>A	ENSP00000386484.5:p.Phe509Tyr
ENST00000409674.5:c.1904T>A	ENSP00000386425.1:p.Phe635Tyr
ENST00000409861.5:c.1904T>A	ENSP00000386626.1:p.Phe635Tyr
ENST00000438166.6:c.1904T>A	ENSP00000409708.2:p.Phe635Tyr
ENST00000464846.5:n.342T>A
ENST00000492005.1:n.27T>A
ENST00000540309.5:c.*18T>A	ENSP00000440892.1:n.*18T>A
NM_000408.4:c.1904T>A	NP_000399.3:p.Phe635Tyr
NM_001083112.2:c.1904T>A	NP_001076581.2:p.Phe635Tyr
XM_005246469.1:c.1904T>A	XP_005246526.1:p.Phe635Tyr
XM_005246470.3:c.1802T>A	XP_005246527.1:p.Phe601Tyr
XM_011510977.1:c.1904T>A	XP_011509279.1:p.Phe635Tyr
XM_011510978.1:c.1802T>A	XP_011509280.1:p.Phe601Tyr
XM_011510979.1:c.1526T>A	XP_011509281.1:p.Phe509Tyr
XM_011510980.1:c.1223T>A	XP_011509282.1:p.Phe408Tyr
XM_005246469.2:c.1904T>A	XP_005246526.1:p.Phe635Tyr
XM_011510977.2:c.1904T>A	XP_011509279.1:p.Phe635Tyr
XM_011510978.2:c.1802T>A	XP_011509280.1:p.Phe601Tyr
XM_017003830.1:c.1904T>A	XP_016859319.1:p.Phe635Tyr
XM_024452798.1:c.1904T>A	XP_024308566.1:p.Phe635Tyr
NM_000408.5:c.1904T>A MANE Select	NP_000399.3:p.Phe635Tyr
NM_001083112.3:c.1904T>A	NP_001076581.2:p.Phe635Tyr