Canonical Allele Identifier: CA5342892
Gene: AGPAT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2057769
ClinVar RCV Id: RCV002914943 RCV003228108
dbSNP Id: rs764787916
ExAC: 9:139569199 ACTT / A
gnomAD v2: 9-139569199-ACTT-A
gnomAD v3: 9-136674747-ACTT-A
gnomAD v4: 9-136674747-ACTT-A
MyVariant Identifiers: chr9:g.139569200_139569202del (hg19) chr9:g.136674749_136674751del (hg38) chr9:g.136674748_136674750del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136674754_136674756del , CM000671.2:g.136674754_136674756del GRCh38
NC_000009.11:g.139569206_139569208del , CM000671.1:g.139569206_139569208del GRCh37
NC_000009.10:g.138689027_138689029del NCBI36
NG_008090.1:g.17710_17712del

Transcript Alleles

HGVS Amino-acid Change
ENST00000371696.7:c.646_648del MANE Select ENSP00000360761.2:p.Lys216del
ENST00000371694.7:c.550_552del ENSP00000360759.3:p.Lys184del
ENST00000371696.6:c.646_648del ENSP00000360761.2:p.Lys216del
ENST00000472820.1:n.574_576del
ENST00000538402.1:c.646_648del ENSP00000438919.1:p.Lys216del
NM_001012727.1:c.550_552del NP_001012745.1:p.Lys184del
NM_006412.3:c.646_648del NP_006403.2:p.Lys216del
NM_006412.4:c.646_648del MANE Select NP_006403.2:p.Lys216del
NM_001012727.2:c.550_552del NP_001012745.1:p.Lys184del
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