Canonical Allele Identifier: CA348664311

Gene: GPD2

Linked Data

• dbSNP Id: rs1331817643
• gnomAD v2: 2-157435473-G-T
• gnomAD v4: 2-156578961-G-T
• MyVariant Identifiers: chr2:g.157435473G>T (hg19) ; chr2:g.156578961G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.156578961G>T , CM000664.2:g.156578961G>T	GRCh38
NC_000002.11:g.157435473G>T , CM000664.1:g.157435473G>T	GRCh37
NC_000002.10:g.157143719G>T	NCBI36
NG_016606.1:g.148509G>T
NG_016606.2:g.148509G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438166.7:c.1840G>T MANE Select	ENSP00000409708.2:p.Asp614Tyr
ENST00000310454.10:c.1840G>T	ENSP00000308610.5:p.Asp614Tyr
ENST00000409125.8:c.1462G>T	ENSP00000386484.5:p.Asp488Tyr
ENST00000409674.5:c.1840G>T	ENSP00000386425.1:p.Asp614Tyr
ENST00000409861.5:c.1840G>T	ENSP00000386626.1:p.Asp614Tyr
ENST00000438166.6:c.1840G>T	ENSP00000409708.2:p.Asp614Tyr
ENST00000464846.5:n.194G>T
ENST00000540309.5:c.1135-125G>T	ENSP00000440892.1:n.1135-125G>T
NM_000408.4:c.1840G>T	NP_000399.3:p.Asp614Tyr
NM_001083112.2:c.1840G>T	NP_001076581.2:p.Asp614Tyr
XM_005246469.1:c.1840G>T	XP_005246526.1:p.Asp614Tyr
XM_005246470.3:c.1738G>T	XP_005246527.1:p.Asp580Tyr
XM_011510977.1:c.1840G>T	XP_011509279.1:p.Asp614Tyr
XM_011510978.1:c.1738G>T	XP_011509280.1:p.Asp580Tyr
XM_011510979.1:c.1462G>T	XP_011509281.1:p.Asp488Tyr
XM_011510980.1:c.1159G>T	XP_011509282.1:p.Asp387Tyr
XM_005246469.2:c.1840G>T	XP_005246526.1:p.Asp614Tyr
XM_011510977.2:c.1840G>T	XP_011509279.1:p.Asp614Tyr
XM_011510978.2:c.1738G>T	XP_011509280.1:p.Asp580Tyr
XM_017003830.1:c.1840G>T	XP_016859319.1:p.Asp614Tyr
XM_024452798.1:c.1840G>T	XP_024308566.1:p.Asp614Tyr
NM_000408.5:c.1840G>T MANE Select	NP_000399.3:p.Asp614Tyr
NM_001083112.3:c.1840G>T	NP_001076581.2:p.Asp614Tyr