Canonical Allele Identifier: CA5829883

Gene: PGAP2

Linked Data

• ClinVar Variation Id: 50503
• ClinVar RCV Id: RCV000043536
• dbSNP Id: rs774843232
• ExAC: 11:3846254 G / C
• gnomAD v2: 11-3846254-G-C
• gnomAD v3: 11-3825024-G-C
• gnomAD v4: 11-3825024-G-C
• MyVariant Identifiers: chr11:g.3846254G>C (hg19) ; chr11:g.3825024G>C (hg38)
• PubMed: PMID:21643797 ; PMID:23561846

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.3825024G>C , CM000673.2:g.3825024G>C	GRCh38
NC_000011.9:g.3846254G>C , CM000673.1:g.3846254G>C	GRCh37
NC_000011.8:g.3802830G>C	NCBI36
NG_051812.1:g.32301G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278243.9:c.713G>C MANE Select	ENSP00000278243.4:p.Arg238Pro
ENST00000278243.8:c.713G>C	ENSP00000278243.4:p.Arg238Pro
ENST00000300730.10:c.689G>C	ENSP00000300730.6:p.Arg230Pro
ENST00000396986.6:c.701G>C	ENSP00000380183.2:p.Arg234Pro
ENST00000396991.6:c.584G>C	ENSP00000380188.3:p.Arg195Pro
ENST00000396993.8:c.62G>C	ENSP00000380190.6:p.Arg21Pro
ENST00000463452.6:c.530G>C	ENSP00000435223.1:p.Arg177Pro
ENST00000464229.5:c.50G>C	ENSP00000434772.2:p.Arg17Pro
ENST00000464261.5:c.609G>C	ENSP00000434088.2:p.Ser203=
ENST00000464441.5:c.62G>C	ENSP00000435799.3:p.Arg21Pro
ENST00000464906.6:c.713G>C	ENSP00000434631.2:p.Arg238Pro
ENST00000465307.6:c.540G>C	ENSP00000434401.1:p.Ser180=
ENST00000469307.4:c.518G>C	ENSP00000434507.1:p.Arg173Pro
ENST00000475884.5:c.*19G>C	ENSP00000437203.2:n.*19G>C
ENST00000477358.6:c.*31G>C	ENSP00000432123.2:n.*31G>C
ENST00000478773.5:n.905G>C
ENST00000479072.5:c.50G>C	ENSP00000435338.1:p.Arg17Pro
ENST00000490830.5:c.141G>C	ENSP00000435703.2:p.Ser47=
ENST00000493547.6:c.603G>C	ENSP00000431851.1:p.Ser201=
ENST00000496834.6:c.62G>C	ENSP00000432721.1:p.Arg21Pro
ENST00000525937.1:n.610G>C
ENST00000528216.5:c.*444G>C	ENSP00000432215.1:n.*444G>C
ENST00000528526.1:n.454G>C
ENST00000532017.5:c.*668G>C	ENSP00000481391.1:n.*668G>C
ENST00000532523.5:c.453G>C	ENSP00000433377.2:p.Ser151=
NM_001145438.2:c.689G>C	NP_001138910.1:p.Arg230Pro
NM_001256235.1:c.584G>C	NP_001243164.1:p.Arg195Pro
NM_001256236.1:c.884G>C	NP_001243165.1:p.Arg295Pro
NM_001256237.1:c.780G>C	NP_001243166.1:p.Ser260=
NM_001256238.1:c.603G>C	NP_001243167.1:p.Ser201=
NM_001256239.1:c.518G>C	NP_001243168.1:p.Arg173Pro
NM_001256240.1:c.530G>C	NP_001243169.1:p.Arg177Pro
NM_001283038.1:c.701G>C	NP_001269967.1:p.Arg234Pro
NM_001283039.1:c.654G>C	NP_001269968.1:p.Ser218=
NM_001283040.1:c.273G>C	NP_001269969.1:p.Ser91=
NM_014489.3:c.713G>C	NP_055304.1:p.Arg238Pro
NR_027016.2:n.481G>C
NR_027017.2:n.1013G>C
NR_027018.2:n.678G>C
NR_045923.1:n.551G>C
NR_045925.1:n.461G>C
NR_045926.1:n.473G>C
NR_045927.1:n.630G>C
NR_045929.1:n.597G>C
NR_104270.1:n.539G>C
NR_104271.1:n.799G>C
NR_104272.1:n.469G>C
XM_006718181.2:c.716G>C	XP_006718244.1:p.Arg239Pro
XM_006718183.2:c.650G>C	XP_006718246.1:p.Arg217Pro
XM_006718185.2:c.611G>C	XP_006718248.1:p.Arg204Pro
XM_006718186.1:c.584G>C	XP_006718249.1:p.Arg195Pro
XM_006718190.2:c.530G>C	XP_006718253.1:p.Arg177Pro
XM_006718191.2:c.518G>C	XP_006718254.1:p.Arg173Pro
XM_006718192.1:c.540G>C	XP_006718255.1:p.Ser180=
XM_006718193.2:c.540G>C	XP_006718256.1:p.Ser180=
XM_011519990.1:c.713G>C	XP_011518292.1:p.Arg238Pro
XM_011519991.1:c.701G>C	XP_011518293.1:p.Arg234Pro
XM_011519992.1:c.881G>C	XP_011518294.1:p.Arg294Pro
XM_011519993.1:c.792G>C	XP_011518295.1:p.Ser264=
XM_011519994.1:c.786G>C	XP_011518296.1:p.Ser262=
XM_011519995.1:c.851G>C	XP_011518297.1:p.Arg284Pro
XM_011519996.1:c.833G>C	XP_011518298.1:p.Arg278Pro
XM_011519997.1:c.815G>C	XP_011518299.1:p.Arg272Pro
XM_011519998.1:c.815G>C	XP_011518300.1:p.Arg272Pro
XM_011519999.1:c.815G>C	XP_011518301.1:p.Arg272Pro
XM_011520000.1:c.794G>C	XP_011518302.1:p.Arg265Pro
XM_011520001.1:c.530G>C	XP_011518303.1:p.Arg177Pro
XM_011520002.1:c.518G>C	XP_011518304.1:p.Arg173Pro
XM_011520003.1:c.713G>C	XP_011518305.1:p.Arg238Pro
XM_011520004.1:c.713G>C	XP_011518306.1:p.Arg238Pro
XM_011520005.1:c.584G>C	XP_011518307.1:p.Arg195Pro
XM_011520006.1:c.540G>C	XP_011518308.1:p.Ser180=
XM_011520007.1:c.540G>C	XP_011518309.1:p.Ser180=
XM_011520008.1:c.540G>C	XP_011518310.1:p.Ser180=
NM_001346397.1:c.683G>C	NP_001333326.1:p.Arg228Pro
NM_001346398.1:c.530G>C	NP_001333327.1:p.Arg177Pro
NM_001346399.1:c.540G>C	NP_001333328.1:p.Ser180=
NM_001346400.1:c.518G>C	NP_001333329.1:p.Arg173Pro
NM_001346401.1:c.528G>C	NP_001333330.1:p.Ser176=
NM_001346402.1:c.650G>C	NP_001333331.1:p.Arg217Pro
NM_001346403.1:c.792G>C	NP_001333332.1:p.Ser264=
NM_001346404.1:c.609G>C	NP_001333333.1:p.Ser203=
NM_001346405.1:c.530G>C	NP_001333334.1:p.Arg177Pro
NR_027017.3:n.1153G>C
NR_144427.1:n.624G>C
NR_144428.1:n.1013G>C
NR_144429.1:n.765G>C
NR_144430.1:n.228G>C
XM_006718181.3:c.716G>C	XP_006718244.1:p.Arg239Pro
XM_006718186.2:c.584G>C	XP_006718249.1:p.Arg195Pro
XM_006718190.3:c.530G>C	XP_006718253.1:p.Arg177Pro
XM_006718191.3:c.518G>C	XP_006718254.1:p.Arg173Pro
XM_011519990.2:c.941G>C	XP_011518292.2:p.Arg314Pro
XM_011519991.2:c.929G>C	XP_011518293.2:p.Arg310Pro
XM_011519993.2:c.1020G>C	XP_011518295.2:p.Ser340=
XM_011519994.2:c.1014G>C	XP_011518296.2:p.Ser338=
XM_011519998.2:c.815G>C	XP_011518300.1:p.Arg272Pro
XM_011520003.2:c.713G>C	XP_011518305.1:p.Arg238Pro
XM_011520004.2:c.713G>C	XP_011518306.1:p.Arg238Pro
XM_011520006.2:c.540G>C	XP_011518308.1:p.Ser180=
XM_011520007.2:c.540G>C	XP_011518309.1:p.Ser180=
XM_017017558.1:c.668G>C	XP_016873047.1:p.Arg223Pro
XM_017017559.1:c.693G>C	XP_016873048.1:p.Ser231=
XM_017017560.1:c.681G>C	XP_016873049.1:p.Ser227=
XM_024448442.1:c.795G>C	XP_024304210.1:p.Ser265=
XM_024448443.1:c.572G>C	XP_024304211.1:p.Arg191Pro
XM_024448444.1:c.572G>C	XP_024304212.1:p.Arg191Pro
XM_024448445.1:c.603G>C	XP_024304213.1:p.Ser201=
XM_024448446.1:c.528G>C	XP_024304214.1:p.Ser176=
NM_001256239.2:c.518G>C	NP_001243168.1:p.Arg173Pro
NM_001256240.2:c.530G>C	NP_001243169.1:p.Arg177Pro
NM_001346397.2:c.683G>C	NP_001333326.1:p.Arg228Pro
NM_001346398.2:c.530G>C	NP_001333327.1:p.Arg177Pro
NM_001346399.2:c.540G>C	NP_001333328.1:p.Ser180=
NM_001346400.2:c.518G>C	NP_001333329.1:p.Arg173Pro
NM_001346401.2:c.528G>C	NP_001333330.1:p.Ser176=
NM_001346402.2:c.650G>C	NP_001333331.1:p.Arg217Pro
NM_014489.4:c.713G>C MANE Select	NP_055304.1:p.Arg238Pro
NR_027016.3:n.457G>C
NR_027017.4:n.1074G>C
NR_045923.2:n.472G>C
NR_045925.2:n.382G>C
NR_045926.2:n.394G>C
NR_045927.2:n.551G>C
NR_045929.2:n.573G>C
NR_104270.2:n.460G>C
NR_104271.2:n.720G>C
NR_104272.2:n.445G>C
NR_144427.2:n.545G>C
NR_144428.2:n.989G>C
NR_144429.2:n.741G>C
NR_144430.2:n.204G>C