Canonical Allele Identifier: CA2040760
Gene: PGAP1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.196848023A>G
GRCh37 chr2:g.197712747A>G
Revel Score:
ENST00000422382 0.199
ENST00000354764 (MANE Select) 0.199
gnomAD v2:
2:197712747 A / G
gnomAD v3:
2:196848023 A / G
gnomAD v4:
chr2-196848023-A-G
Joint Max Group AF 0.00038987 (NFE)
Genomes Max Group AF 0.0004571 (NFE)
Exomes Max Group AF 0.00037775 (NFE)
ClinVar RCV:
RCV000560352
RCV001848971
ClinVar Variation:
474989
dbSNP:
150893861
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.196848023A>G , CM000664.2:g.196848023A>G GRCh38
NC_000002.11:g.197712747A>G , CM000664.1:g.197712747A>G GRCh37
NC_000002.10:g.197420992A>G NCBI36
NG_046780.1:g.83973T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000354764.9:c.1876T>C MANE Select ENSP00000346809.3:p.Tyr626His
ENST00000354764.8:c.1876T>C ENSP00000346809.3:p.Tyr626His
ENST00000409475.5:c.*3T>C ENSP00000387028.1:n.*3T>C
ENST00000423035.5:c.*1807T>C ENSP00000415405.1:n.*1807T>C
ENST00000470179.5:n.1340T>C
NM_024989.3:c.1876T>C NP_079265.2:p.Tyr626His
XM_011511878.1:c.1876T>C XP_011510180.1:p.Tyr626His
XM_011511879.1:c.1354T>C XP_011510181.1:p.Tyr452His
XM_011511880.1:c.*3T>C XP_011510182.1:n.*3T>C
NM_001321099.1:c.1354T>C NP_001308028.1:p.Tyr452His
NM_001321100.1:c.709T>C NP_001308029.1:p.Tyr237His
XM_017004992.1:c.1354T>C XP_016860481.1:p.Tyr452His
XM_017004993.1:c.1354T>C XP_016860482.1:p.Tyr452His
XM_017004994.1:c.709T>C XP_016860483.1:p.Tyr237His
XM_024453156.1:c.709T>C XP_024308924.1:p.Tyr237His
XR_001738959.1:n.2161T>C
NM_024989.4:c.1876T>C MANE Select NP_079265.2:p.Tyr626His
NM_001321099.2:c.1354T>C NP_001308028.1:p.Tyr452His
NM_001321100.2:c.709T>C NP_001308029.1:p.Tyr237His
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